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id="toc-Cause" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Cause"> <div class="vector-toc-text"> 3 Cause </div> </a> <button aria-controls="toc-Cause-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> Toggle Cause subsection </button> <ul id="toc-Cause-sublist" class="vector-toc-list"> <li id="toc-Evolution" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Evolution"> <div class="vector-toc-text"> 3.1 Evolution </div> </a> <ul id="toc-Evolution-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Pathophysiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Pathophysiology"> <div class="vector-toc-text"> 4 Pathophysiology </div> </a> <button aria-controls="toc-Pathophysiology-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> Toggle Pathophysiology subsection </button> <ul id="toc-Pathophysiology-sublist" class="vector-toc-list"> <li id="toc-Alpha-thalassemias" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Alpha-thalassemias"> <div class="vector-toc-text"> 4.1 Alpha-thalassemias </div> </a> <ul id="toc-Alpha-thalassemias-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Beta-thalassemia" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Beta-thalassemia"> <div class="vector-toc-text"> 4.2 Beta-thalassemia </div> </a> <ul id="toc-Beta-thalassemia-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Delta-thalassemia" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Delta-thalassemia"> <div class="vector-toc-text"> 4.3 Delta-thalassemia </div> </a> <ul id="toc-Delta-thalassemia-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Combination_hemoglobinopathies" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Combination_hemoglobinopathies"> <div class="vector-toc-text"> 4.4 Combination hemoglobinopathies </div> </a> <ul id="toc-Combination_hemoglobinopathies-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> 5 Diagnosis </div> </a> <ul id="toc-Diagnosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Management" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Management"> <div class="vector-toc-text"> 6 Management </div> </a> <button aria-controls="toc-Management-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> Toggle Management subsection </button> <ul id="toc-Management-sublist" class="vector-toc-list"> <li id="toc-Red_blood_cell_transfusions" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Red_blood_cell_transfusions"> <div class="vector-toc-text"> 6.1 Red blood cell transfusions </div> </a> <ul id="toc-Red_blood_cell_transfusions-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Growth_hormone_therapy" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Growth_hormone_therapy"> <div class="vector-toc-text"> 6.2 Growth hormone therapy </div> </a> <ul id="toc-Growth_hormone_therapy-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Bone-marrow_transplantation" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Bone-marrow_transplantation"> <div class="vector-toc-text"> 6.3 Bone-marrow transplantation </div> </a> <ul id="toc-Bone-marrow_transplantation-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Gene_therapy" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Gene_therapy"> <div class="vector-toc-text"> 6.4 Gene therapy </div> </a> <ul id="toc-Gene_therapy-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-HbF_induction" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#HbF_induction"> <div class="vector-toc-text"> 6.5 HbF induction </div> </a> <ul id="toc-HbF_induction-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Other_treatments" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Other_treatments"> <div class="vector-toc-text"> 6.6 Other treatments </div> </a> <ul id="toc-Other_treatments-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Dental_care" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Dental_care"> <div class="vector-toc-text"> 6.7 Dental care </div> </a> <ul id="toc-Dental_care-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Mild_thalassemia" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Mild_thalassemia"> <div class="vector-toc-text"> 6.8 Mild thalassemia </div> </a> <ul id="toc-Mild_thalassemia-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Prevention" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Prevention"> <div class="vector-toc-text"> 7 Prevention </div> </a> <ul id="toc-Prevention-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> 8 Epidemiology </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Etymology_and_synonym" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Etymology_and_synonym"> <div class="vector-toc-text"> 9 Etymology and synonym </div> </a> <ul id="toc-Etymology_and_synonym-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Research" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Research"> <div class="vector-toc-text"> 10 Research </div> </a> <ul id="toc-Research-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> 11 References </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> 12 External links </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" > Toggle the table of contents </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading">Thalassemia</h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 60 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-60" aria-hidden="true" > 60 languages </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-af mw-list-item"><a href="https://af.wikipedia.org/wiki/Talassemie" title="Talassemie – Afrikaans" lang="af" hreflang="af" data-title="Talassemie" data-language-autonym="Afrikaans" data-language-local-name="Afrikaans" class="interlanguage-link-target">Afrikaans</a></li><li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%AB%D9%84%D8%A7%D8%B3%D9%8A%D9%85%D9%8A%D8%A7" title="ثلاسيميا – Arabic" lang="ar" hreflang="ar" data-title="ثلاسيميا" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target">العربية</a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/Talassemiya" title="Talassemiya – Azerbaijani" lang="az" hreflang="az" data-title="Talassemiya" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaijani" class="interlanguage-link-target">Azərbaycanca</a></li><li class="interlanguage-link interwiki-bn mw-list-item"><a href="https://bn.wikipedia.org/wiki/%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE" title="থ্যালাসেমিয়া – Bangla" lang="bn" hreflang="bn" data-title="থ্যালাসেমিয়া" data-language-autonym="বাংলা" data-language-local-name="Bangla" class="interlanguage-link-target">বাংলা</a></li><li class="interlanguage-link interwiki-bg mw-list-item"><a href="https://bg.wikipedia.org/wiki/%D0%A2%D0%B0%D0%BB%D0%B0%D1%81%D0%B5%D0%BC%D0%B8%D1%8F" title="Таласемия – Bulgarian" lang="bg" hreflang="bg" data-title="Таласемия" data-language-autonym="Български" data-language-local-name="Bulgarian" class="interlanguage-link-target">Български</a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Talasemija" title="Talasemija – Bosnian" lang="bs" hreflang="bs" data-title="Talasemija" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target">Bosanski</a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Talass%C3%A8mia" title="Talassèmia – Catalan" lang="ca" hreflang="ca" data-title="Talassèmia" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target">Català</a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Talas%C3%A9mie" title="Talasémie – Czech" lang="cs" hreflang="cs" data-title="Talasémie" data-language-autonym="Čeština" data-language-local-name="Czech" class="interlanguage-link-target">Čeština</a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Thalass%C3%A4mie" title="Thalassämie – German" lang="de" hreflang="de" data-title="Thalassämie" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target">Deutsch</a></li><li class="interlanguage-link interwiki-dv mw-list-item"><a href="https://dv.wikipedia.org/wiki/%DE%8D%DE%AD%DE%87%DE%A6%DE%85%DE%A7_%DE%84%DE%A6%DE%8D%DE%A8" title="ލޭއަޅާ ބަލި – Divehi" lang="dv" hreflang="dv" data-title="ލޭއަޅާ ބަލި" data-language-autonym="ދިވެހިބަސް" data-language-local-name="Divehi" class="interlanguage-link-target">ދިވެހިބަސް</a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%9C%CE%B5%CF%83%CE%BF%CE%B3%CE%B5%CE%B9%CE%B1%CE%BA%CE%AE_%CE%B1%CE%BD%CE%B1%CE%B9%CE%BC%CE%AF%CE%B1" title="Μεσογειακή αναιμία – Greek" lang="el" hreflang="el" data-title="Μεσογειακή αναιμία" data-language-autonym="Ελληνικά" data-language-local-name="Greek" class="interlanguage-link-target">Ελληνικά</a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Talasemia" title="Talasemia – Spanish" lang="es" hreflang="es" data-title="Talasemia" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target">Español</a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/Talasemia" title="Talasemia – Basque" lang="eu" hreflang="eu" data-title="Talasemia" data-language-autonym="Euskara" data-language-local-name="Basque" class="interlanguage-link-target">Euskara</a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%AA%D8%A7%D9%84%D8%A7%D8%B3%D9%85%DB%8C" title="تالاسمی – Persian" lang="fa" hreflang="fa" data-title="تالاسمی" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target">فارسی</a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Thalass%C3%A9mie" title="Thalassémie – French" lang="fr" hreflang="fr" data-title="Thalassémie" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target">Français</a></li><li class="interlanguage-link interwiki-ga mw-list-item"><a href="https://ga.wikipedia.org/wiki/Talasaemacht" title="Talasaemacht – Irish" lang="ga" hreflang="ga" data-title="Talasaemacht" data-language-autonym="Gaeilge" data-language-local-name="Irish" class="interlanguage-link-target">Gaeilge</a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EC%A7%80%EC%A4%91%ED%95%B4_%EB%B9%88%ED%98%88%EC%A6%9D" title="지중해 빈혈증 – Korean" lang="ko" hreflang="ko" data-title="지중해 빈혈증" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target">한국어</a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D4%B9%D5%A1%D5%AC%D5%A1%D5%BD%D5%A5%D5%B4%D5%AB%D5%A1" title="Թալասեմիա – Armenian" lang="hy" hreflang="hy" data-title="Թալասեմիա" data-language-autonym="Հայերեն" data-language-local-name="Armenian" class="interlanguage-link-target">Հայերեն</a></li><li class="interlanguage-link interwiki-hi mw-list-item"><a href="https://hi.wikipedia.org/wiki/%E0%A4%A5%E0%A5%88%E0%A4%B2%E0%A4%BE%E0%A4%B8%E0%A5%80%E0%A4%AE%E0%A4%BF%E0%A4%AF%E0%A4%BE" title="थैलासीमिया – Hindi" lang="hi" hreflang="hi" data-title="थैलासीमिया" data-language-autonym="हिन्दी" data-language-local-name="Hindi" class="interlanguage-link-target">हिन्दी</a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Talasemija" title="Talasemija – Croatian" lang="hr" hreflang="hr" data-title="Talasemija" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target">Hrvatski</a></li><li class="interlanguage-link interwiki-io mw-list-item"><a href="https://io.wikipedia.org/wiki/Talasemio" title="Talasemio – Ido" lang="io" hreflang="io" data-title="Talasemio" data-language-autonym="Ido" data-language-local-name="Ido" class="interlanguage-link-target">Ido</a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Talasemia" title="Talasemia – Indonesian" lang="id" hreflang="id" data-title="Talasemia" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target">Bahasa Indonesia</a></li><li class="interlanguage-link interwiki-ia mw-list-item"><a href="https://ia.wikipedia.org/wiki/Thalassemia" title="Thalassemia – Interlingua" lang="ia" hreflang="ia" data-title="Thalassemia" data-language-autonym="Interlingua" data-language-local-name="Interlingua" class="interlanguage-link-target">Interlingua</a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Talassemia" title="Talassemia – Italian" lang="it" hreflang="it" data-title="Talassemia" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target">Italiano</a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%AA%D7%9C%D7%A1%D7%9E%D7%99%D7%94" title="תלסמיה – Hebrew" lang="he" hreflang="he" data-title="תלסמיה" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target">עברית</a></li><li class="interlanguage-link interwiki-kn mw-list-item"><a href="https://kn.wikipedia.org/wiki/%E0%B2%A5%E0%B2%B2%E0%B2%B8%E0%B3%8D%E0%B2%B8%E0%B2%BF%E0%B2%AE%E0%B2%BF%E0%B2%AF%E0%B2%BE" title="ಥಲಸ್ಸಿಮಿಯಾ – Kannada" lang="kn" hreflang="kn" data-title="ಥಲಸ್ಸಿಮಿಯಾ" data-language-autonym="ಕನ್ನಡ" data-language-local-name="Kannada" class="interlanguage-link-target">ಕನ್ನಡ</a></li><li class="interlanguage-link interwiki-ka mw-list-item"><a href="https://ka.wikipedia.org/wiki/%E1%83%97%E1%83%90%E1%83%9A%E1%83%90%E1%83%A1%E1%83%94%E1%83%9B%E1%83%98%E1%83%90" title="თალასემია – Georgian" lang="ka" hreflang="ka" data-title="თალასემია" data-language-autonym="ქართული" data-language-local-name="Georgian" class="interlanguage-link-target">ქართული</a></li><li class="interlanguage-link interwiki-kk mw-list-item"><a href="https://kk.wikipedia.org/wiki/%D0%A2%D0%B0%D0%BB%D0%B0%D1%81%D1%81%D0%B5%D0%BC%D0%B8%D1%8F" title="Талассемия – Kazakh" lang="kk" hreflang="kk" data-title="Талассемия" data-language-autonym="Қазақша" data-language-local-name="Kazakh" class="interlanguage-link-target">Қазақша</a></li><li class="interlanguage-link interwiki-lv mw-list-item"><a href="https://lv.wikipedia.org/wiki/Talas%C4%93mija" title="Talasēmija – Latvian" lang="lv" hreflang="lv" data-title="Talasēmija" data-language-autonym="Latviešu" data-language-local-name="Latvian" class="interlanguage-link-target">Latviešu</a></li><li class="interlanguage-link interwiki-lt mw-list-item"><a href="https://lt.wikipedia.org/wiki/Talasemija" title="Talasemija – Lithuanian" lang="lt" hreflang="lt" data-title="Talasemija" data-language-autonym="Lietuvių" data-language-local-name="Lithuanian" class="interlanguage-link-target">Lietuvių</a></li><li class="interlanguage-link interwiki-mr mw-list-item"><a href="https://mr.wikipedia.org/wiki/%E0%A4%A5%E0%A5%85%E0%A4%B2%E0%A4%B8%E0%A5%80%E0%A4%AE%E0%A4%BF%E0%A4%AF%E0%A4%BE" title="थॅलसीमिया – Marathi" lang="mr" hreflang="mr" data-title="थॅलसीमिया" data-language-autonym="मराठी" data-language-local-name="Marathi" class="interlanguage-link-target">मराठी</a></li><li class="interlanguage-link interwiki-ms mw-list-item"><a href="https://ms.wikipedia.org/wiki/Talasemia" title="Talasemia – Malay" lang="ms" hreflang="ms" data-title="Talasemia" data-language-autonym="Bahasa Melayu" data-language-local-name="Malay" class="interlanguage-link-target">Bahasa Melayu</a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Thalassemie" title="Thalassemie – Dutch" lang="nl" hreflang="nl" data-title="Thalassemie" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target">Nederlands</a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%82%B5%E3%83%A9%E3%82%BB%E3%83%9F%E3%82%A2" title="サラセミア – Japanese" lang="ja" hreflang="ja" data-title="サラセミア" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target">日本語</a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%A5%E0%AC%BE%E0%AC%B2%E0%AC%BE%E0%AC%B8%E0%AD%87%E0%AC%AE%E0%AC%BF%E0%AC%86" title="ଥାଲାସେମିଆ – Odia" lang="or" hreflang="or" data-title="ଥାଲାସେମିଆ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="Odia" class="interlanguage-link-target">ଓଡ଼ିଆ</a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Talassemiya" title="Talassemiya – Uzbek" lang="uz" hreflang="uz" data-title="Talassemiya" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="Uzbek" class="interlanguage-link-target">Oʻzbekcha / ўзбекча</a></li><li class="interlanguage-link interwiki-pa mw-list-item"><a href="https://pa.wikipedia.org/wiki/%E0%A8%A5%E0%A9%88%E0%A8%B2%E0%A9%87%E0%A8%B8%E0%A9%87%E0%A8%AE%E0%A9%80%E0%A8%86" title="ਥੈਲੇਸੇਮੀਆ – Punjabi" lang="pa" hreflang="pa" data-title="ਥੈਲੇਸੇਮੀਆ" data-language-autonym="ਪੰਜਾਬੀ" data-language-local-name="Punjabi" class="interlanguage-link-target">ਪੰਜਾਬੀ</a></li><li class="interlanguage-link interwiki-pnb mw-list-item"><a href="https://pnb.wikipedia.org/wiki/%D8%AA%DA%BE%DB%8C%D9%84%DB%8C%D8%B3%DB%8C%D9%85%DB%8C%D8%A7" title="تھیلیسیمیا – Western Punjabi" lang="pnb" hreflang="pnb" data-title="تھیلیسیمیا" data-language-autonym="پنجابی" data-language-local-name="Western Punjabi" class="interlanguage-link-target">پنجابی</a></li><li class="interlanguage-link interwiki-ps mw-list-item"><a href="https://ps.wikipedia.org/wiki/%D8%AA%D9%84%D8%A7%D8%B3%DB%90%D9%85%DB%8C%D8%A7" title="تلاسېمیا – Pashto" lang="ps" hreflang="ps" data-title="تلاسېمیا" data-language-autonym="پښتو" data-language-local-name="Pashto" class="interlanguage-link-target">پښتو</a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Talasemia" title="Talasemia – Polish" lang="pl" hreflang="pl" data-title="Talasemia" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target">Polski</a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Talassemia" title="Talassemia – Portuguese" lang="pt" hreflang="pt" data-title="Talassemia" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target">Português</a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A2%D0%B0%D0%BB%D0%B0%D1%81%D1%81%D0%B5%D0%BC%D0%B8%D1%8F" title="Талассемия – Russian" lang="ru" hreflang="ru" data-title="Талассемия" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target">Русский</a></li><li class="interlanguage-link interwiki-sc badge-Q17437796 badge-featuredarticle mw-list-item" title="featured article badge"><a href="https://sc.wikipedia.org/wiki/Talassemia" title="Talassemia – Sardinian" lang="sc" hreflang="sc" data-title="Talassemia" data-language-autonym="Sardu" data-language-local-name="Sardinian" class="interlanguage-link-target">Sardu</a></li><li class="interlanguage-link interwiki-si mw-list-item"><a href="https://si.wikipedia.org/wiki/%E0%B6%AD%E0%B7%90%E0%B6%BD%E0%B7%83%E0%B7%93%E0%B6%B8%E0%B7%92%E0%B6%BA%E0%B7%8F%E0%B7%80" title="තැලසීමියාව – Sinhala" lang="si" hreflang="si" data-title="තැලසීමියාව" data-language-autonym="සිංහල" data-language-local-name="Sinhala" class="interlanguage-link-target">සිංහල</a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Thalassaemia" title="Thalassaemia – Simple English" lang="en-simple" hreflang="en-simple" data-title="Thalassaemia" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target">Simple English</a></li><li class="interlanguage-link interwiki-ckb mw-list-item"><a href="https://ckb.wikipedia.org/wiki/%D8%AA%DB%95%D9%84%D8%A7%D8%B3%DB%8C%D9%85%DB%8C%D8%A7" title="تەلاسیمیا – Central Kurdish" lang="ckb" hreflang="ckb" data-title="تەلاسیمیا" data-language-autonym="کوردی" data-language-local-name="Central Kurdish" class="interlanguage-link-target">کوردی</a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/Talasemija" title="Talasemija – Serbian" lang="sr" hreflang="sr" data-title="Talasemija" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target">Српски / srpski</a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Talasemija" title="Talasemija – Serbo-Croatian" lang="sh" hreflang="sh" data-title="Talasemija" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="Serbo-Croatian" class="interlanguage-link-target">Srpskohrvatski / српскохрватски</a></li><li class="interlanguage-link interwiki-su mw-list-item"><a href="https://su.wikipedia.org/wiki/Talas%C3%A9mia" title="Talasémia – Sundanese" lang="su" hreflang="su" data-title="Talasémia" data-language-autonym="Sunda" data-language-local-name="Sundanese" class="interlanguage-link-target">Sunda</a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Talassemia" title="Talassemia – Finnish" lang="fi" hreflang="fi" data-title="Talassemia" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target">Suomi</a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Talassemi" title="Talassemi – Swedish" lang="sv" hreflang="sv" data-title="Talassemi" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target">Svenska</a></li><li class="interlanguage-link interwiki-ta mw-list-item"><a href="https://ta.wikipedia.org/wiki/%E0%AE%A4%E0%AE%B2%E0%AE%9A%E0%AF%80%E0%AE%AE%E0%AE%BF%E0%AE%AF%E0%AE%BE" title="தலசீமியா – Tamil" lang="ta" hreflang="ta" data-title="தலசீமியா" data-language-autonym="தமிழ்" data-language-local-name="Tamil" class="interlanguage-link-target">தமிழ்</a></li><li class="interlanguage-link interwiki-te mw-list-item"><a href="https://te.wikipedia.org/wiki/%E0%B0%A4%E0%B0%B2%E0%B0%B8%E0%B1%87%E0%B0%AE%E0%B0%BF%E0%B0%AF%E0%B0%BE" title="తలసేమియా – Telugu" lang="te" hreflang="te" data-title="తలసేమియా" data-language-autonym="తెలుగు" data-language-local-name="Telugu" class="interlanguage-link-target">తెలుగు</a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%97%E0%B8%B2%E0%B8%A5%E0%B8%B1%E0%B8%AA%E0%B8%8B%E0%B8%B5%E0%B9%80%E0%B8%A1%E0%B8%B5%E0%B8%A2" title="ทาลัสซีเมีย – Thai" lang="th" hreflang="th" data-title="ทาลัสซีเมีย" data-language-autonym="ไทย" data-language-local-name="Thai" class="interlanguage-link-target">ไทย</a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Akdeniz_anemisi" title="Akdeniz anemisi – Turkish" lang="tr" hreflang="tr" data-title="Akdeniz anemisi" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target">Türkçe</a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A2%D0%B0%D0%BB%D0%B0%D1%81%D0%B5%D0%BC%D1%96%D1%8F" title="Таласемія – Ukrainian" lang="uk" hreflang="uk" data-title="Таласемія" data-language-autonym="Українська" data-language-local-name="Ukrainian" class="interlanguage-link-target">Українська</a></li><li class="interlanguage-link interwiki-ur mw-list-item"><a href="https://ur.wikipedia.org/wiki/%D8%AA%DA%BE%DB%8C%D9%84%DB%8C%D8%B3%DB%8C%D9%85%DB%8C%D8%A7" title="تھیلیسیمیا – Urdu" lang="ur" hreflang="ur" data-title="تھیلیسیمیا" data-language-autonym="اردو" data-language-local-name="Urdu" class="interlanguage-link-target">اردو</a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/B%E1%BB%87nh_tan_m%C3%A1u_b%E1%BA%A9m_sinh" title="Bệnh tan máu bẩm sinh – Vietnamese" lang="vi" hreflang="vi" data-title="Bệnh tan máu bẩm sinh" 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data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Family of inherited blood disorders</div> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Thalassemia</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Thalassaemia, Mediterranean anemia</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><a href="/wiki/File:Delta_Beta_Thalassemia.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/5/52/Delta_Beta_Thalassemia.jpg/220px-Delta_Beta_Thalassemia.jpg" decoding="async" width="220" height="176" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/5/52/Delta_Beta_Thalassemia.jpg/330px-Delta_Beta_Thalassemia.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/5/52/Delta_Beta_Thalassemia.jpg/440px-Delta_Beta_Thalassemia.jpg 2x" data-file-width="1280" data-file-height="1024" /></a></td></tr><tr><td colspan="2" class="infobox-full-data">Peripheral blood film from a person with <a href="/wiki/Delta-beta_thalassemia" title="Delta-beta thalassemia">delta-beta thalassemia</a></td></tr><tr><th scope="row" class="infobox-label">Pronunciation</th><td class="infobox-data"><style data-mw-deduplicate="TemplateStyles:r1126788409">.mw-parser-output .plainlist ol,.mw-parser-output .plainlist ul{line-height:inherit;list-style:none;margin:0;padding:0}.mw-parser-output .plainlist ol li,.mw-parser-output .plainlist ul li{margin-bottom:0}</style><div class="plainlist"><ul><li><a href="/wiki/Help:IPA/English" title="Help:IPA/English">/θælɪˈsiːmiə/</a> </li></ul></div></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Hematology" title="Hematology">Hematology</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data">Feeling <a href="/wiki/Fatigue_(medical)" class="mw-redirect" title="Fatigue (medical)">tired</a>, <a href="/wiki/Pale_skin" class="mw-redirect" title="Pale skin">pale skin</a>, <a href="/wiki/Splenomegaly" title="Splenomegaly">enlarged spleen</a>, <a href="/wiki/Jaundice" title="Jaundice">yellowish skin</a>, dark urine<a href="#cite_note-NIH2012Sym-1">[1]</a></td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data"><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic</a> (<a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a>)<a href="#cite_note-NIH2012Cau-2">[2]</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Blood tests, <a href="/wiki/Genetic_tests" class="mw-redirect" title="Genetic tests">genetic tests</a><a href="#cite_note-NIH2012Diag-3">[3]</a></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data"><a href="/wiki/Blood_transfusions" class="mw-redirect" title="Blood transfusions">Blood transfusions</a>, <a href="/wiki/Iron_chelation" class="mw-redirect" title="Iron chelation">iron chelation</a>, <a href="/wiki/Folic_acid" class="mw-redirect" title="Folic acid">folic acid</a><a href="#cite_note-NIH2012Tx-4">[4]</a></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">280 million (2015)<a href="#cite_note-GBD2015Pre-5">[5]</a></td></tr><tr><th scope="row" class="infobox-label">Deaths</th><td class="infobox-data">16,800 (2015)<a href="#cite_note-GBD2015De-6">[6]</a></td></tr></tbody></table> Thalassemias are inherited <a href="/wiki/Blood_disorder" class="mw-redirect" title="Blood disorder">blood disorders</a> that result in abnormal <a href="/wiki/Hemoglobin" title="Hemoglobin">hemoglobin</a>.<a href="#cite_note-NIH2012What-7">[7]</a> Symptoms depend on the type of thalassemia and can vary from none to severe.<a href="#cite_note-NIH2012Sym-1">[1]</a> Often there is mild to severe <a href="/wiki/Anemia" title="Anemia">anemia</a> (low <a href="/wiki/Red_blood_cell" title="Red blood cell">red blood cells</a> or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live.<a href="#cite_note-NIH2012Sym-1">[1]</a> Symptoms of anemia include feeling <a href="/wiki/Fatigue_(medical)" class="mw-redirect" title="Fatigue (medical)">tired</a> and having <a href="/wiki/Pale_skin" class="mw-redirect" title="Pale skin">pale skin</a>.<a href="#cite_note-NIH2012Sym-1">[1]</a> Other symptoms of thalassemia include bone problems, an <a href="/wiki/Splenomegaly" title="Splenomegaly">enlarged spleen</a>, <a href="/wiki/Jaundice" title="Jaundice">yellowish skin</a>, <a href="/wiki/Pulmonary_hypertension" title="Pulmonary hypertension">pulmonary hypertension</a>, and dark urine.<a href="#cite_note-NIH2012Sym-1">[1]</a> Slow growth may occur in children.<a href="#cite_note-NIH2012Sym-1">[1]</a> Symptoms and presentations of thalassemia can change over time. Older terms included Cooley's anemia and Mediterranean anemia for beta-thalassemia. These have been superseded by the terms Transfusion-Dependent Thalassemia (TDT) and non-Transfusion-Dependent Thalassemia (NTDT). Patients with TDT require regular transfusions, typically every two to five weeks. TDTs include Beta-thalassemia major, nondeletional HbH disease, survived Hb Bart's disease, and severe HbE/beta-thalassemia.<a href="#cite_note-Baird-8">[8]</a> Thalassemias are <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorders</a>.<a href="#cite_note-NIH2012Cau-2">[2]</a> There are two main types, <a href="/wiki/Alpha_thalassemia" class="mw-redirect" title="Alpha thalassemia">alpha thalassemia</a> and <a href="/wiki/Beta_thalassemia" title="Beta thalassemia">beta thalassemia</a>.<a href="#cite_note-NIH2012What-7">[7]</a> The severity of alpha and beta thalassemia depends on how many of the four genes for <a href="/wiki/Alpha_globin" class="mw-redirect" title="Alpha globin">alpha globin</a> or two genes for <a href="/wiki/Beta_globin" class="mw-redirect" title="Beta globin">beta globin</a> are missing.<a href="#cite_note-NIH2012Cau-2">[2]</a> Diagnosis is typically by blood tests including a <a href="/wiki/Complete_blood_count" title="Complete blood count">complete blood count</a>, special hemoglobin tests, and genetic tests.<a href="#cite_note-NIH2012Diag-3">[3]</a> Diagnosis may occur before birth through <a href="/wiki/Prenatal_testing" title="Prenatal testing">prenatal testing</a>.<a href="#cite_note-9">[9]</a> Treatment depends on the type and severity.<a href="#cite_note-NIH2012Tx-4">[4]</a> Treatment for those with more severe disease often includes regular <a href="/wiki/Blood_transfusions" class="mw-redirect" title="Blood transfusions">blood transfusions</a>, <a href="/wiki/Iron_chelation" class="mw-redirect" title="Iron chelation">iron chelation</a>, and <a href="/wiki/Folic_acid" class="mw-redirect" title="Folic acid">folic acid</a>.<a href="#cite_note-NIH2012Tx-4">[4]</a> Iron chelation may be done with <a href="/wiki/Deferoxamine" title="Deferoxamine">deferoxamine</a>, <a href="/wiki/Deferasirox" title="Deferasirox">deferasirox</a> or <a href="/wiki/Deferiprone" title="Deferiprone">deferiprone</a>.<a href="#cite_note-NIH2012Tx-4">[4]</a><a href="#cite_note-10">[10]</a> Occasionally, a <a href="/wiki/Bone_marrow_transplant" class="mw-redirect" title="Bone marrow transplant">bone marrow transplant</a> may be an option.<a href="#cite_note-NIH2012Tx-4">[4]</a> Complications may include <a href="/wiki/Iron_overload" title="Iron overload">iron overload</a> from the transfusions with resulting <a href="/wiki/Heart_disease" class="mw-redirect" title="Heart disease">heart</a> or <a href="/wiki/Liver_disease" title="Liver disease">liver disease</a>, <a href="/wiki/Infection" title="Infection">infections</a>, and <a href="/wiki/Osteoporosis" title="Osteoporosis">osteoporosis</a>.<a href="#cite_note-NIH2012Sym-1">[1]</a> If the <a href="/wiki/Spleen" title="Spleen">spleen</a> becomes overly enlarged, <a href="/wiki/Splenectomy" title="Splenectomy">surgical removal</a> may be required.<a href="#cite_note-NIH2012Sym-1">[1]</a> Thalassemia patients who do not respond well to blood transfusions can take <a href="/wiki/Hydroxycarbamide" title="Hydroxycarbamide">hydroxyurea</a> or <a href="/wiki/Thalidomide" title="Thalidomide">thalidomide</a>, and sometimes a combination of both.<a href="#cite_note-11">[11]</a> Hydroxyurea is the only FDA approved drug for thalassemia. Patients who took 10 mg/kg of hydroxyurea every day for a year had significantly higher hemoglobin levels, and it was a well-tolerated treatment for patients who did not respond well to blood transfusions.<a href="#cite_note-12">[12]</a> Other known hemoglobin-inducers include thalidomide, but it has not been tested in a clinical setting. The combination of thalidomide and hydroxyurea resulted in hemoglobin levels increasing significantly in transfusion-dependent and non-transfusion dependent patients <a href="#cite_note-13">[13]</a> As of 2015, thalassemia occurs in about 280 million people, with about 439,000 having severe disease.<a href="#cite_note-14">[14]</a> It is most common among people of <a href="/wiki/Greece" title="Greece">Greek</a>, <a href="/wiki/Italy" title="Italy">Italian</a>, <a href="/wiki/Middle_East" title="Middle East">Middle Eastern</a>, <a href="/wiki/South_Asia" title="South Asia">South Asian</a>, and <a href="/wiki/Africa" title="Africa">African</a> descent.<a href="#cite_note-NIH2012What-7">[7]</a> Males and females have similar rates of disease.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>] It resulted in 16,800 deaths in 2015, down from 36,000 deaths in 1990.<a href="#cite_note-GBD2015De-6">[6]</a><a href="#cite_note-GDB2013-15">[15]</a> Those who have minor degrees of thalassemia, in common with those who have <a href="/wiki/Sickle-cell_disease" class="mw-redirect" title="Sickle-cell disease">sickle-cell trait</a>, have some protection against <a href="/wiki/Malaria" title="Malaria">malaria</a>, explaining why sickle-cell trait and thalassemia are more common in regions of the world where the risk of malaria is higher.<a href="#cite_note-16">[16]</a> An estimated 1/3 of people with thalassemia have "non-transfusion dependent thalassemia" and do not depend on regularly continuing blood transfusions to survive. <style data-mw-deduplicate="TemplateStyles:r886046785">.mw-parser-output .toclimit-2 .toclevel-1 ul,.mw-parser-output .toclimit-3 .toclevel-2 ul,.mw-parser-output .toclimit-4 .toclevel-3 ul,.mw-parser-output .toclimit-5 .toclevel-4 ul,.mw-parser-output .toclimit-6 .toclevel-5 ul,.mw-parser-output .toclimit-7 .toclevel-6 ul{display:none}</style><div class="toclimit-3"><meta property="mw:PageProp/toc" /></div> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=1" title="Edit section: Signs and symptoms">edit</a>]</div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Anemia.JPG" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/47/Anemia.JPG/290px-Anemia.JPG" decoding="async" width="290" height="206" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/47/Anemia.JPG/435px-Anemia.JPG 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/47/Anemia.JPG/580px-Anemia.JPG 2x" data-file-width="2976" data-file-height="2112" /></a><figcaption>Left: Hand of a person with severe anemia. Right: Hand of a person without anemia.</figcaption></figure> <figure typeof="mw:File/Thumb"><a href="/wiki/File:%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/49/%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg/250px-%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg" decoding="async" width="250" height="188" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/49/%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg/375px-%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/49/%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg/500px-%E0%A6%8F%E0%A6%95%E0%A6%9C%E0%A6%A8_%E0%A6%A5%E0%A7%8D%E0%A6%AF%E0%A6%BE%E0%A6%B2%E0%A6%BE%E0%A6%B8%E0%A7%87%E0%A6%AE%E0%A6%BF%E0%A6%AF%E0%A6%BC%E0%A6%BE%E0%A6%B0_%E0%A6%B0%E0%A7%8B%E0%A6%97%E0%A7%80.jpg 2x" data-file-width="4000" data-file-height="3000" /></a><figcaption>A patient having thalassemia shows enlarged spleen.</figcaption></figure> <ul><li><a href="/wiki/Iron_overload" title="Iron overload">Iron overload</a>: People with thalassemia can get an overload of iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to the heart, liver, and <a href="/wiki/Endocrine_system" title="Endocrine system">endocrine system</a>, which includes glands that produce hormones that regulate processes throughout the body. The damage is characterized by excessive deposits of iron. Without adequate iron chelation therapy, almost all patients with beta-thalassemia accumulate potentially fatal iron levels.<a href="#cite_note-17">[17]</a></li> <li>Infection: People with thalassemia have an increased risk of infection. This is especially true if the spleen has been removed.<a href="#cite_note-18">[18]</a></li> <li>Bone deformities: Thalassemia can make the bone marrow expand, which causes bones to widen. This can result in abnormal bone structure, especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the risk of broken bones.<a href="#cite_note-19">[19]</a></li> <li><a href="/wiki/Splenomegaly" title="Splenomegaly">Enlarged spleen</a>: The spleen aids in fighting infection and filters unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells and the task of removing these cells causes the spleen to enlarge. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. Severe enlargement of the spleen may necessitate its removal.<a href="#cite_note-20">[20]</a></li> <li>Slowed growth rates: <a href="/wiki/Anemia" title="Anemia">anemia</a> can cause the growth of a child to slow down. Puberty may also be delayed in children with thalassemia.<a href="#cite_note-21">[21]</a></li> <li>Heart problems: Diseases, such as congestive heart failure and abnormal heart rhythms, may be associated with severe thalassemia.<a href="#cite_note-22">[22]</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Hemoglobin_structural_biology">Hemoglobin structural biology</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=2" title="Edit section: Hemoglobin structural biology">edit</a>]</div> Normal human hemoglobins are tetrameric proteins composed of two pairs of globin chains, each of which contains one alpha-like (α-like) chain and one beta-like (β-like) chain. Each globin chain is associated with an iron-containing heme moiety. Throughout life, the synthesis of the alpha-like and the beta-like (also called non-alpha-like) chains is balanced so that their ratio is relatively constant and there is no excess of either type.<a href="#cite_note-23">[23]</a> The specific alpha and beta-like chains that are incorporated into Hb are highly regulated during development: <ul><li>Embryonic Hbs are expressed as early as four to six weeks of embryogenesis and disappear around the eighth week of gestation as they are replaced by fetal Hb.<a href="#cite_note-24">[24]</a><a href="#cite_note-25">[25]</a> Embryonic Hbs include: <ul><li>Hb Gower-1, composed of two ζ globins (zeta globins) and two ε globins (epsilon globins) (ζ2ε2)</li> <li>Hb Gower-2, composed of two alpha globins and two epsilon globins (α2ε2)</li> <li>Hb Portland I, composed of two zeta globins and two gamma globins (ζ2γ2)</li> <li>Hb Portland II, composed of two zeta globins and two beta globins (ζ2β2)</li></ul></li> <li><a href="/wiki/Fetal_hemoglobin" title="Fetal hemoglobin">Fetal Hb</a> (Hb F) is produced from approximately eight weeks of gestation through birth and constitutes approximately 80 percent of Hb in the full-term neonate. It declines during the first few months of life and, in the normal state, constitutes <1 percent of total Hb by and past early childhood. Hb F is composed of two alpha globins and two gamma globins (α2γ2). Patients with β-thalassemia exhibit higher levels of gamma globulin, and thus more production of Hb F, to counteract the imbalance from not being able to produce beta chains.<a href="#cite_note-26">[26]</a></li> <li>Adult Hb (<a href="/wiki/Hemoglobin_A" title="Hemoglobin A">Hb A</a>) is produced at low levels through embryonic and fetal life and is the predominant Hb in children by six months of age and onward; it constitutes 96-97% of total Hb in individuals without a hemoglobinopathy. It is composed of two alpha globins and two beta globins (α2β2).[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li><a href="/wiki/Hemoglobin_A2" title="Hemoglobin A2">Hb A2</a> is a minor adult Hb that normally accounts for approximately 2.5-3.5% of total Hb from six months of age onward. It is composed of two alpha globins and two delta globins (α2δ2).[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li></ul> <div class="mw-heading mw-heading2"><h2 id="Cause">Cause</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=3" title="Edit section: Cause">edit</a>]</div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Autorecessive.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/260px-Autorecessive.svg.png" decoding="async" width="260" height="304" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/390px-Autorecessive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/520px-Autorecessive.svg.png 2x" data-file-width="1350" data-file-height="1580" /></a><figcaption>Thalassemia has an <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> pattern of inheritance.</figcaption></figure> Both α- and β-thalassemias are often inherited in an <a href="/wiki/Autosome" title="Autosome">autosomal</a> <a href="/wiki/Recessive_gene" class="mw-redirect" title="Recessive gene">recessive</a> manner. Cases of <a href="/wiki/Dominant_gene" class="mw-redirect" title="Dominant gene">dominantly</a> inherited α- and β-thalassemias have been reported, the first of which was in an Irish family with two deletions of 4 and 11 bp in exon 3 interrupted by an insertion of 5 bp in the β-globin gene. For the autosomal recessive forms of the disease, both parents must be carriers for a child to be affected. If both parents carry a hemoglobinopathy trait, the risk is 25% for each pregnancy for an affected child.<a href="#cite_note-:1-27">[27]</a> The genes involved in thalassemia control the production of healthy hemoglobin. Hemoglobin binds oxygen in the lungs and releases it when the red cells reach peripheral tissues, such as the liver. The binding and release of oxygen by hemoglobin are essential for survival.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>] <div class="mw-heading mw-heading3"><h3 id="Evolution">Evolution</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=4" title="Edit section: Evolution">edit</a>]</div> Having a single genetic variant for thalassemia may <a href="/wiki/Human_genetic_resistance_to_malaria" title="Human genetic resistance to malaria">protect against malaria</a> and thus can be an advantage.<a href="#cite_note-Uyoga2006-28">[28]</a> People diagnosed with <a href="/wiki/Heterozygous" class="mw-redirect" title="Heterozygous">heterozygous</a> (carrier) β-thalassemia have some protection against <a href="/wiki/Coronary_heart_disease" class="mw-redirect" title="Coronary heart disease">coronary heart disease</a>.<a href="#cite_note-29">[29]</a> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=5" title="Edit section: Pathophysiology">edit</a>]</div> Normally, the majority of adult hemoglobin (<a href="/wiki/Hemoglobin_A" title="Hemoglobin A">HbA</a>) is composed of four protein chains, two α and two β-globin chains arranged into a <a href="/wiki/Heterotetramer" class="mw-redirect" title="Heterotetramer">heterotetramer</a>. In thalassemia, patients have defects in the noncoding region of either the α or β-globin genes, causing ineffective production of normal alpha- or beta-globin chains, which can lead to ineffective erythropoiesis, premature red blood cell destruction, and anemia.<a href="#cite_note-Baird-8">[8]</a> The thalassemias are classified according to which chain of the hemoglobin molecule is affected. In <a href="/wiki/Alpha-thalassemia" title="Alpha-thalassemia">α-thalassemias</a>, production of the α-globin chain is affected, while in <a href="/wiki/Beta-thalassemia" class="mw-redirect" title="Beta-thalassemia">β-thalassemia</a>, production of the β-globin chain is affected.<a href="#cite_note-30">[30]</a> The β-globin chains are encoded by a single gene on <a href="/wiki/Chromosome_11" title="Chromosome 11">chromosome 11</a>; α-globin chains are encoded by two closely linked genes on <a href="/wiki/Chromosome_16" title="Chromosome 16">chromosome 16</a>.<a href="#cite_note-31">[31]</a> Thus, in a healthy person with two copies of each chromosome, two loci encode the β chain, and four loci encode the α chain. Deletion of one of the α loci has a high prevalence in people of African or Asian descent, making them more likely to develop α-thalassemia. β-thalassemias are not only common in <a href="/wiki/Ethnic_groups_of_Africa" class="mw-redirect" title="Ethnic groups of Africa">Africans</a>, but also in <a href="/wiki/Greeks" title="Greeks">Greeks</a> and <a href="/wiki/Turkish_people" title="Turkish people">Turks</a>.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>] <div class="mw-heading mw-heading3"><h3 id="Alpha-thalassemias">Alpha-thalassemias</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=6" title="Edit section: Alpha-thalassemias">edit</a>]</div> <style data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Alpha-thalassemia" title="Alpha-thalassemia">Alpha-thalassemia</a></div> The α-thalassemias involve the genes HBA1<a href="#cite_note-32">[32]</a> and HBA2,<a href="#cite_note-33">[33]</a> inherited in a <a href="/wiki/Mendelian_inheritance" title="Mendelian inheritance">Mendelian recessive</a> fashion. Two <a href="/wiki/Genetic_loci" class="mw-redirect" title="Genetic loci">gene loci</a> and so four alleles exist. Two genetic loci exist for α-globin, thus four alleles are in diploid cells. Two alleles are maternal and two alleles are paternal in origin. The severity of the α-thalassemias is correlated with the number of affected α-globin; alleles: the greater, the more severe will be the manifestations of the disease.<a href="#cite_note-Galanello2011-34">[34]</a> Alpha-thalassemias result in decreased alpha-globin production; therefore, fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. The excess β chains form unstable tetramers (called hemoglobin H or HbH of 4 beta chains), which have abnormal oxygen dissociation curves. Alpha thalassemias often are found in people from Southeast Asia, the Middle East, China, and in those of African descent.<a href="#cite_note-The_Basics_of_Anemia-35">[35]</a> <table class="wikitable"> <caption> </caption> <tbody><tr> <th># of missing alleles </th> <th>Types of alpha thalassemia<a href="#cite_note-Galanello2011-34">[34]</a> </th> <th>Symptoms </th></tr> <tr> <td>1 </td> <td>Silent carrier </td> <td>No symptoms </td></tr> <tr> <td>2 </td> <td>Alpha thalassemia trait </td> <td>Minor anemia </td></tr> <tr> <td>3 </td> <td>Hemoglobin H disease </td> <td>Mild to moderate anemia; may lead normal life </td></tr> <tr> <td>4 </td> <td>Hydrops fetalis </td> <td>Death usually occurs in utero or at birth </td></tr></tbody></table> <div class="mw-heading mw-heading3"><h3 id="Beta-thalassemia">Beta-thalassemia</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=7" title="Edit section: Beta-thalassemia">edit</a>]</div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Beta-thalassemia" class="mw-redirect" title="Beta-thalassemia">Beta-thalassemia</a></div> Beta thalassemias are due to mutations in the <a href="/wiki/HBB_(gene)" class="mw-redirect" title="HBB (gene)">HBB gene</a> on chromosome 11,<a href="#cite_note-36">[36]</a> also inherited in an autosomal, recessive fashion. The severity of the disease depends on the nature of the mutation and on the presence of mutations in one or both alleles. Mutated alleles are called β+ when partial function is conserved (either the protein has a reduced function, or it functions normally but is produced in reduced quantity) or βo, when no functioning protein is produced. The situation of both alleles determines the clinical picture: <ul><li>β thalassemia major (<a href="/wiki/Mediterranean_Sea" title="Mediterranean Sea">Mediterranean</a> anemia or <a href="/wiki/Thomas_Benton_Cooley" title="Thomas Benton Cooley">Cooley</a> anemia) is caused by a βo/βo genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia;</li> <li>β thalassemia intermedia is caused by a β+/βo or β+/β+ genotype. In this form, some hemoglobin A is produced;</li> <li>β thalassemia minor is caused by a β/βo or β/β+ genotype. Only one of the two β globin alleles contains a mutation, so β chain production is not terribly compromised and patients may be relatively asymptomatic.</li></ul> Beta thalassemia most often occurs in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.<a href="#cite_note-The_Basics_of_Anemia-35">[35]</a> <div class="mw-heading mw-heading3"><h3 id="Delta-thalassemia">Delta-thalassemia</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=8" title="Edit section: Delta-thalassemia">edit</a>]</div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Delta-thalassemia" class="mw-redirect" title="Delta-thalassemia">Delta-thalassemia</a></div> As well as alpha and beta chains present in hemoglobin, about 3% of adult hemoglobin is made of alpha and delta chains. Just as with beta thalassemia, mutations that affect the ability of this gene to produce delta chains can occur.<a href="#cite_note-37">[37]</a><a href="#cite_note-38">[38]</a> <div class="mw-heading mw-heading3"><h3 id="Combination_hemoglobinopathies">Combination hemoglobinopathies</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=9" title="Edit section: Combination hemoglobinopathies">edit</a>]</div> Thalassemia can coexist with other <a href="/wiki/Hemoglobinopathies" class="mw-redirect" title="Hemoglobinopathies">hemoglobinopathies</a>. The most common of these are: <ul><li><a href="/wiki/Hemoglobin_E" title="Hemoglobin E">Hemoglobin E</a>/thalassemia: common in <a href="/wiki/Cambodia" title="Cambodia">Cambodia</a>, <a href="/wiki/Thailand" title="Thailand">Thailand</a>, and parts of <a href="/wiki/India" title="India">India</a>, it is clinically similar to β thalassemia major or thalassemia intermedia.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li><a href="/wiki/Hemoglobin_S" class="mw-redirect" title="Hemoglobin S">Hemoglobin S</a>/thalassemia: common in <a href="/wiki/Ethnic_groups_of_Africa" class="mw-redirect" title="Ethnic groups of Africa">African</a> and <a href="/wiki/Mediterranean" class="mw-redirect" title="Mediterranean">Mediterranean</a> populations, it is clinically similar to <a href="/wiki/Sickle-cell_anemia" class="mw-redirect" title="Sickle-cell anemia">sickle-cell anemia</a>, with the additional feature of <a href="/wiki/Splenomegaly" title="Splenomegaly">splenomegaly</a>.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li><a href="/wiki/Hemoglobin_C" title="Hemoglobin C">Hemoglobin C</a>/thalassemia: common in <a href="/wiki/Mediterranean" class="mw-redirect" title="Mediterranean">Mediterranean</a> and <a href="/wiki/Ethnic_groups_of_Africa" class="mw-redirect" title="Ethnic groups of Africa">African</a> populations, hemoglobin C/βo thalassemia causes a moderately severe hemolytic anemia with splenomegaly; hemoglobin C/β+ thalassemia produces a milder disease.[<a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed">citation needed</a>]</li> <li><a href="/wiki/Hemoglobin_D" title="Hemoglobin D">Hemoglobin D</a>/thalassemia: common in the northwestern parts of <a href="/wiki/India" title="India">India</a> and <a href="/wiki/Pakistan" title="Pakistan">Pakistan</a> (<a href="/wiki/Punjab_region" class="mw-redirect" title="Punjab region">Punjab region</a>).<a href="#cite_note-39">[39]</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=10" title="Edit section: Diagnosis">edit</a>]</div> Thalassemia can be diagnosed via a <a href="/wiki/Complete_blood_count" title="Complete blood count">complete blood count</a>, <a href="/wiki/Hemoglobin_electrophoresis" title="Hemoglobin electrophoresis">hemoglobin electrophoresis</a> or <a href="/wiki/High-performance_liquid_chromatography" title="High-performance liquid chromatography">high-performance liquid chromatography</a>, and DNA testing.<a href="#cite_note-40">[40]</a><a href="#cite_note-Keohane-41">[41]</a> Hemoglobin electrophoresis is not widely available in developing countries, but the <a href="/wiki/Mentzer_index" title="Mentzer index">Mentzer index</a> can also be used for diagnosis of thalassemia; it is not a definitive test but it can suggest the possibility of thalassemia. The Mentzer index can be calculated from a <a href="/wiki/Complete_blood_count" title="Complete blood count">complete blood count</a> report.<a href="#cite_note-KottkeMarchant2012-42">[42]</a> Endocrine Complications in Thalassemia 1) Hypogonadism: iron overload in pituitary gonadotropic cells causes decreased gonadotrophin secretion which leads to delayed, slow or arrested puberty. 2) Hypoparathyroidism: chronic anemia causes hematopoiesis which results in bone reabsorption which decreases parathyroid secretion. 3) Adrenal insufficiency: Decreased growth of pubic and axillary hair in adolescent TM patients. This is due to excess iron deposition which causes adrenal dysfunction. 4) Hypothyroidism: Increase in weight and retarded growth in adolescent patients. Secondary is rare and majority suffers from primary hypothyroidism. <a rel="nofollow" class="external text" href="https://journals.lww.com/indjem/fulltext/2013/17010/Growth_and_endocrine_disorders_in_thalassemia__The.3.aspx">[85]</a> <div class="mw-heading mw-heading2"><h2 id="Management">Management</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=11" title="Edit section: Management">edit</a>]</div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236090951"><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/Management_of_thalassemia" title="Management of thalassemia">Management of thalassemia</a></div> Given the range of severities, some people require no treatment (those who are asymptomatic) while some people require regular blood transfusions for survival.<a href="#cite_note-:0-43">[43]</a> People with severe thalassemia require medical treatment and the main treatment is usually a red blood cell transfusion. <div class="mw-heading mw-heading3"><h3 id="Red_blood_cell_transfusions">Red blood cell transfusions</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=12" title="Edit section: Red blood cell transfusions">edit</a>]</div> Blood transfusions are the main treatment approach for prolonging life.<a href="#cite_note-emedicine1-44">[44]</a> The approach and frequency needed varies in each person depending on severity, age, if the person has stunted growth, presence of <a href="/wiki/Extramedullary" title="Extramedullary">extramedullary</a> <a href="/wiki/Erythropoiesis" title="Erythropoiesis">erythropoiesis</a> (pediatrics), if a person is pregnant, and heart health. Blood transfusions come with risks including making iron overload worse, the risk of infections, risk of red blood cell antibody formation, increased risk of the development of hypersensitivity reactions, and the risk of gall bladder inflammation (<a href="/wiki/Cholecystitis" title="Cholecystitis">cholecystitis</a>).<a href="#cite_note-:0-43">[43]</a> Multiple blood transfusions may result in iron overload. The iron overload related to thalassemia may be treated by <a href="/wiki/Chelation_therapy" title="Chelation therapy">chelation therapy</a> with the medications <a href="/wiki/Deferoxamine" title="Deferoxamine">deferoxamine</a>, <a href="/wiki/Deferiprone" title="Deferiprone">deferiprone</a>, or <a href="/wiki/Deferasirox" title="Deferasirox">deferasirox</a>.<a href="#cite_note-Neu2010-45">[45]</a><a href="#cite_note-46">[46]</a><a href="#cite_note-:4-47">[47]</a> These treatments have resulted in longer life expectancy for those with thalassemia major.<a href="#cite_note-Neu2010-45">[45]</a> <a href="/wiki/Deferoxamine" title="Deferoxamine">Deferoxamine</a> is only effective as a daily injection, complicating its long-term use. However, it is inexpensive and safe. Adverse effects include primary skin reactions around the injection site and <a href="/wiki/Hearing_loss" title="Hearing loss">hearing loss</a>.<a href="#cite_note-Neu2010-45">[45]</a> Deferasirox and deferiprone are both oral medications, whose common side effects include nausea, vomiting and diarrhea. When comparing effectiveness, there is no evidence that deferasirox or deferiprone is superior, however, a long term comparison has not been performed.<a href="#cite_note-:4-47">[47]</a> Deferasirox is not effective for all patients and may not be suitable for those with significant cardiac issues related to iron overload, while deferiprone appears to be the most effective agent when the heart is involved. Furthermore, the cost of deferasirox is also significant.<a href="#cite_note-Neu2010-45">[45]</a> Combining <a href="/wiki/Calcium_channel_blocker" title="Calcium channel blocker">calcium channel blocker</a> medications with iron chelation therapy is under study, however, the benefits are not clear from clinical trials conducted.<a href="#cite_note-48">[48]</a> <div class="mw-heading mw-heading3"><h3 id="Growth_hormone_therapy">Growth hormone therapy</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=13" title="Edit section: Growth hormone therapy">edit</a>]</div> There is some evidence that <a href="/wiki/Growth_hormone_therapy" title="Growth hormone therapy">growth hormone replacement therapy</a> may help to increase the rate at which children with thalassemia grow taller.<a href="#cite_note-49">[49]</a> <div class="mw-heading mw-heading3"><h3 id="Bone-marrow_transplantation">Bone-marrow transplantation</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=14" title="Edit section: Bone-marrow transplantation">edit</a>]</div> <a href="/wiki/Hematopoietic_stem_cell_transplantation" title="Hematopoietic stem cell transplantation">Bone-marrow transplantation</a> may offer the possibility of a cure in young people who have an <a href="/wiki/Human_leukocyte_antigen" title="Human leukocyte antigen">HLA</a>-matched donor.<a href="#cite_note-Gaz2011-50">[50]</a> Success rates have reached the 80–90% range.<a href="#cite_note-Gaz2011-50">[50]</a> Mortality from the procedure is about 3%.<a href="#cite_note-51">[51]</a> There are no randomized controlled trials that have tested the safety and efficacy of <a href="/wiki/Allogeneic" class="mw-redirect" title="Allogeneic">non-identical donor</a> bone-marrow transplantation in persons with β- thalassemia who are dependent on blood transfusion.<a href="#cite_note-52">[52]</a> <a href="/wiki/Graft-versus-host_disease" title="Graft-versus-host disease">Graft-versus-host diseases</a> (GvHD) are one relevant side effect of bone-marrow transplantation. Further research is necessary to evaluate whether mesenchymal stromal cells can be used as prophylaxis or treatment for GvHD.<a href="#cite_note-53">[53]</a> If the person does not have an HLA-matched compatible donor, bone-marrow transplantation from haploidentical mother to child (mismatched donor) may be attempted. In a study of 31 people, the thalassemia-free survival rate was 70%, rejection 23% and mortality 7%. The most positive results tend to occur with very young people.<a href="#cite_note-54">[54]</a> <div class="mw-heading mw-heading3"><h3 id="Gene_therapy">Gene therapy</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=15" title="Edit section: Gene therapy">edit</a>]</div> <a href="/wiki/Betibeglogene_autotemcel" title="Betibeglogene autotemcel">Betibeglogene autotemcel</a>, sold under the brand name Zynteglo, is a <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> for the treatment for beta thalassemia.<a href="#cite_note-Neg2016-55">[55]</a> It was approved for medical use in the European Union in May 2019,<a href="#cite_note-Zynteglo_EPAR-56">[56]</a> and in the United States in August 2022.<a href="#cite_note-57">[57]</a><a href="#cite_note-FDA_PR_20220817-58">[58]</a> <a href="/wiki/Betibeglogene_autotemcel" title="Betibeglogene autotemcel">Betibeglogene autotemcel</a> is indicated for the treatment of people twelve years and older with transfusion-dependent beta thalassemia who do not have a β0/β0 genotype, for whom hematopoietic stem cell (HSC) transplantation is appropriate but a human leukocyte antigen (HLA)-matched related HSC donor is not available. The procedure involves collecting <a href="/wiki/Hematopoietic_stem_cells" class="mw-redirect" title="Hematopoietic stem cells">hematopoietic stem cells</a> (HSCs) from the affected person's blood. The HSCs then have a beta-globin gene added using a <a href="/wiki/Lentiviral_vector" class="mw-redirect" title="Lentiviral vector">lentiviral vector</a>. After destroying the affected person's bone marrow with a dose of chemotherapy (a myeloablative conditioning regimen), the altered HSCs are infused back into the affected person where they become engrafted in the bone marrow where they proliferate. This potentially results in a progressive increase in hemoglobin A2 synthesis in all subsequent developing red blood cells, with resultant resolution of the anemia.<a href="#cite_note-59">[59]</a> <div class="mw-heading mw-heading3"><h3 id="HbF_induction">HbF induction</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=16" title="Edit section: HbF induction">edit</a>]</div> <a href="/wiki/Exagamglogene_autotemcel" title="Exagamglogene autotemcel">Exagamglogene autotemcel</a>, sold under the brand name Casgevy, is a <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> for the treatment of transfusion-dependent <a href="/wiki/Beta_thalassemia" title="Beta thalassemia">beta thalassemia</a>. It was developed by <a href="/wiki/Vertex_Pharmaceuticals" title="Vertex Pharmaceuticals">Vertex Pharmaceuticals</a> and <a href="/wiki/CRISPR_Therapeutics" title="CRISPR Therapeutics">CRISPR Therapeutics</a>.<a href="#cite_note-Stein_2023_q322-60">[60]</a> The treatment was approved in the United Kingdom for the treatment of transfusion-dependent beta thalassemia in November 2023<a href="#cite_note-61">[61]</a><a href="#cite_note-Sheridan-62">[62]</a><a href="#cite_note-Vertex_PR-63">[63]</a> and in the United States in January 2024.<a href="#cite_note-FDA_PR_20231208-64">[64]</a><a href="#cite_note-65">[65]</a><a href="#cite_note-66">[66]</a> <a href="/wiki/Exagamglogene_autotemcel" title="Exagamglogene autotemcel">Exagamglogene autotemcel</a> is the first cell-based gene therapy treatment utilizing <a href="/wiki/CRISPR_gene_editing" title="CRISPR gene editing">CRISPR/Cas9 gene editing</a> technology to be approved by the US <a href="/wiki/Food_and_Drug_Administration" title="Food and Drug Administration">Food and Drug Administration</a> (FDA).<a href="#cite_note-FDA_PR_20231208-64">[64]</a> The <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> is made from the recipient's own blood stem cells, which are modified, and are given back as a one-time, single-dose infusion as part of a <a href="/wiki/Hematopoietic_stem_cell_transplant" class="mw-redirect" title="Hematopoietic stem cell transplant">hematopoietic stem cell transplant</a>. Prior to treatment, the recipient's own stem cells are collected, and then the recipient must undergo myeloablative conditioning (high-dose chemotherapy), a process that removes cells from the bone marrow so they can be replaced with the modified cells in <a href="/wiki/Exagamglogene_autotemcel" title="Exagamglogene autotemcel">exagamglogene autotemcel</a>. The modified blood stem cells are transplanted back into the recipient where they engraft within the bone marrow and increase the production of fetal hemoglobin (HbF), a type of hemoglobin that facilitates oxygen delivery. <div class="mw-heading mw-heading3"><h3 id="Other_treatments">Other treatments</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=17" title="Edit section: Other treatments">edit</a>]</div> <a href="/wiki/Hydroxyurea" class="mw-redirect" title="Hydroxyurea">Hydroxyurea</a> treatment with the goal of reactivating gamma‐genes to produce HbF does not have any high quality evidence supporting its effectiveness.<a href="#cite_note-67">[67]</a> There is no evidence from <a href="/wiki/Randomized_controlled_trial" title="Randomized controlled trial">randomized controlled trials</a> to support zinc supplementation for those with thalassemia.<a href="#cite_note-68">[68]</a> Computer programs or mobile applications have been suggested as tools to help people manage thalassemia and follow their therapies including iron chelation therapy. The effectiveness of these applications has not been well investigated.<a href="#cite_note-69">[69]</a> People with thalassemia are at a higher risk of osteoporosis.<a href="#cite_note-:3-70">[70]</a> Treatment options include bisphosphonates and sometimes the addition of hormonal therapy. Other treatments have been suggested including calcitonin, zinc, hydroxyurea, and calcium supplementation. The effectiveness of bisphosphonates and zinc is not clear and further studies are required.<a href="#cite_note-:3-70">[70]</a> <div class="mw-heading mw-heading3"><h3 id="Dental_care">Dental care</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=18" title="Edit section: Dental care">edit</a>]</div> Helping people with thalassemia with dental care and treating dental problems can be challenging due to the underlying condition. Overload of iron due to blood transfusions may lead to iron deposition in the teeth and discolouration, and there is an increased risk for infection.<a href="#cite_note-:2-71">[71]</a> Treatment options for people with thalassemia need to be modified to ensure that the needs of the person are considered and early detection and early management of any problems is strongly suggested in order to reduce the risk of the person needing more complicated dental treatments.<a href="#cite_note-:2-71">[71]</a> The evidence supporting the effectiveness of dental treatments on people with thalassemia is weak and higher quality clinical trials are needed.<a href="#cite_note-:2-71">[71]</a> <div class="mw-heading mw-heading3"><h3 id="Mild_thalassemia">Mild thalassemia</h3>[<a href="/w/index.php?title=Thalassemia&action=edit&section=19" title="Edit section: Mild thalassemia">edit</a>]</div> People with thalassemia <a href="/wiki/Phenotypic_trait" title="Phenotypic trait">traits</a> do not require medical or follow-up care after the initial diagnosis is made.<a href="#cite_note-emedicine1-44">[44]</a> People with β-thalassemia trait should be warned that their condition can be misdiagnosed as the more common <a href="/wiki/Iron-deficiency_anemia" title="Iron-deficiency anemia">iron-deficiency anemia</a>. They should avoid routine use of <a href="/wiki/Iron_supplements" class="mw-redirect" title="Iron supplements">iron supplements</a>, but iron deficiency may develop during pregnancy or from chronic bleeding.<a href="#cite_note-72">[72]</a> Genetic counseling is indicated for all persons with genetic disorders, especially when the family is at risk of a severe form of disease that may be prevented.<a href="#cite_note-73">[73]</a> <div class="mw-heading mw-heading2"><h2 id="Prevention">Prevention</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=20" title="Edit section: Prevention">edit</a>]</div> The <a href="/wiki/American_College_of_Obstetricians_and_Gynecologists" title="American College of Obstetricians and Gynecologists">American College of Obstetricians and Gynecologists</a> recommends all people thinking of becoming pregnant be tested to see if they have thalassemia.<a href="#cite_note-74">[74]</a> <a href="/wiki/Genetic_counseling" title="Genetic counseling">Genetic counseling</a> and <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a> are recommended for families who carry a thalassemia trait.<a href="#cite_note-:1-27">[27]</a> Understanding the genetic risk, ideally before a family is started, would hopefully allow families to understand more about the condition and make an informed decision that is best for their family.<a href="#cite_note-:1-27">[27]</a> A screening policy exists in <a href="/wiki/Cyprus" title="Cyprus">Cyprus</a> to reduce the rate of thalassemia, which, since the program's implementation in the 1970s (also including prenatal screening and abortion), has reduced the number of children born with the disease from one of every 158 births to almost zero.<a href="#cite_note-75">[75]</a> Greece also has a screening program to identify people who are carriers.<a href="#cite_note-76">[76]</a> In <a href="/wiki/Iran" title="Iran">Iran</a> as a premarital screening, the man's red cell indices are checked first. If he has <a href="/wiki/Microcytosis" title="Microcytosis">microcytosis</a> (<a href="/wiki/Mean_corpuscular_hemoglobin" title="Mean corpuscular hemoglobin">mean cell hemoglobin</a> < 27 pg or <a href="/wiki/Mean_corpuscular_volume" title="Mean corpuscular volume">mean red cell volume</a> < 80 fl), the woman is tested. When both are microcytic, their <a href="/wiki/Hemoglobin_A2" title="Hemoglobin A2">hemoglobin A2</a> concentrations are measured. If both have a concentration above 3.5% (diagnostic of thalassemia trait) they are referred to the local designated health post for <a href="/wiki/Genetic_counseling" title="Genetic counseling">genetic counseling</a>.<a href="#cite_note-77">[77]</a> Large-scale awareness campaigns are being organized in <a href="/wiki/India" title="India">India</a><a href="#cite_note-78">[78]</a> both by government and non-government organizations to promote voluntary premarital screening, with marriage between carriers strongly discouraged. <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=21" title="Edit section: Epidemiology">edit</a>]</div> The beta form of thalassemia is particularly prevalent among <a href="/wiki/Mediterranean" class="mw-redirect" title="Mediterranean">Mediterranean</a> peoples, and this geographical association is responsible for its original name.<a href="#cite_note-Greer2013_13-79">[79]</a> Thalassemia resulted in 25,000 deaths in 2013 down from 36,000 deaths in 1990.<a href="#cite_note-GDB2013-15">[15]</a> In Europe, the highest concentrations of the disease are found in <a href="/wiki/Greece" title="Greece">Greece</a>, coastal regions in <a href="/wiki/Turkey" title="Turkey">Turkey</a> (particularly the <a href="/wiki/Aegean_Region" class="mw-redirect" title="Aegean Region">Aegean Region</a> such as <a href="/wiki/%C4%B0zmir" title="İzmir">İzmir</a>, <a href="/wiki/Bal%C4%B1kesir" title="Balıkesir">Balıkesir</a>, <a href="/wiki/Ayd%C4%B1n" title="Aydın">Aydın</a>, <a href="/wiki/Mu%C4%9Fla" title="Muğla">Muğla</a>, and <a href="/wiki/Mediterranean_Region" class="mw-redirect" title="Mediterranean Region">Mediterranean Region</a> such as <a href="/wiki/Antalya" title="Antalya">Antalya</a>, <a href="/wiki/Adana" title="Adana">Adana</a>, <a href="/wiki/Mersin" title="Mersin">Mersin</a>), in southern Spain, in parts of <a href="/wiki/Italy" title="Italy">Italy</a>, particularly <a href="/wiki/Southern_Italy" title="Southern Italy">southern Italy</a>. With the exception of the <a href="/wiki/Balearics" class="mw-redirect" title="Balearics">Balearics</a>, the major Mediterranean Islands, such as <a href="/wiki/Sicily" title="Sicily">Sicily</a>, <a href="/wiki/Sardinia" title="Sardinia">Sardinia</a>, <a href="/wiki/Malta" title="Malta">Malta</a>, <a href="/wiki/Corsica" title="Corsica">Corsica</a>, <a href="/wiki/Cyprus" title="Cyprus">Cyprus</a>, and <a href="/wiki/Crete" title="Crete">Crete</a> are heavily affected. Other Mediterranean peoples, as well as those in the vicinity of the Mediterranean, also have high rates of thalassemia, including people from <a href="/wiki/North_Africa" title="North Africa">North Africa</a> and <a href="/wiki/West_Asia" title="West Asia">West Asia</a>. Far from the Mediterranean, <a href="/wiki/South_Asians" class="mw-redirect" title="South Asians">South Asians</a> are also affected, with the world's highest concentration of carriers (16–18% of the population) in the <a href="/wiki/Maldives" title="Maldives">Maldives</a>.<a href="#cite_note-80">[80]</a> The disease is also found in populations living in Africa, the Americas, and in <a href="/wiki/Tharu_people" title="Tharu people">Tharu people</a> in the <a href="/wiki/Terai" title="Terai">Terai</a> region of <a href="/wiki/Nepal" title="Nepal">Nepal</a> and <a href="/wiki/India" title="India">India</a>.<a href="#cite_note-81">[81]</a> It is believed to account for much lower rates of malaria illnesses and deaths,<a href="#cite_note-82">[82]</a> accounting for the historic ability of Tharus to survive in areas with heavy malaria infestation while others could not. Thalassemias are particularly associated with people of Mediterranean origin, Arabs (especially <a href="/wiki/Palestinian_people" class="mw-redirect" title="Palestinian people">Palestinians</a> and people of Palestinian descent), and Asians.<a href="#cite_note-83">[83]</a> The estimated prevalence is 16% in people from <a href="/wiki/Cyprus" title="Cyprus">Cyprus</a>, 1%<a href="#cite_note-84">[84]</a> in <a href="/wiki/Thailand" title="Thailand">Thailand</a>, and 3–8% in populations from <a href="/wiki/Bangladesh" title="Bangladesh">Bangladesh</a>, <a href="/wiki/China" title="China">China</a>, <a href="/wiki/India" title="India">India</a>, <a href="/wiki/Malaysia" title="Malaysia">Malaysia</a> and <a href="/wiki/Pakistan" title="Pakistan">Pakistan</a>. Estimates suggest that approximately 1.5% of the global population (80 – 90 million people) are β-thalassemia carriers.<a href="#cite_note-85">[85]</a> However, exact data on carrier rates in many populations are lacking, particularly in developing areas of the world known or expected to be heavily affected.<a href="#cite_note-86">[86]</a><a href="#cite_note-87">[87]</a> Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult.<a href="#cite_note-WEATHERALL,_D._J._2005-88">[88]</a> While there are some diagnostic and treatment facilities in developing countries, in most cases these are not provided by government services and are available only to patients who can afford them. In general, poorer populations only have access to limited diagnostic facilities and blood transfusions. In some developing countries, there are virtually no facilities for diagnosis or management of thalassemia.<a href="#cite_note-WEATHERALL,_D._J._2005-88">[88]</a> <div class="mw-heading mw-heading2"><h2 id="Etymology_and_synonym">Etymology and synonym</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=22" title="Edit section: Etymology and synonym">edit</a>]</div> The word thalassemia (<a href="/wiki/Help:IPA/English" title="Help:IPA/English">/θælɪˈsiːmiə/</a>) derives from the <a href="/wiki/Greek_language" title="Greek language">Greek</a> <a href="/wiki/Thalassa_(mythology)" class="mw-redirect" title="Thalassa (mythology)">thalassa</a> (θάλασσα), "sea",<a href="#cite_note-89">[89]</a> and <a href="/wiki/Neo-Latin" title="Neo-Latin">Neo-Latin</a> <a href="https://en.wiktionary.org/wiki/-aemia#Suffix" class="extiw" title="wikt:-aemia">-emia</a> (from the Greek <a href="/wiki/Compound_(linguistics)" title="Compound (linguistics)">compound</a> stem -aimia (-αιμία), from haima (αἷμα), "blood").<a href="#cite_note-90">[90]</a> It was coined because the condition called "Mediterranean anemia" was first <a href="/wiki/Medical_literature" title="Medical literature">described</a> in people of <a href="/wiki/Mediterranean_Sea" title="Mediterranean Sea">Mediterranean</a> ethnicities. "Mediterranean anemia" was renamed <a href="/wiki/Beta_thalassemia#Thalassemia_major" title="Beta thalassemia">thalassemia major</a> once the genetics were better understood. The word thalassemia was first used in 1932.<a href="#cite_note-Greer2013_13-79">[79]</a>: 877 <a href="#cite_note-91">[91]</a> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=23" title="Edit section: Research">edit</a>]</div> <style data-mw-deduplicate="TemplateStyles:r1251242444">.mw-parser-output .ambox{border:1px solid #a2a9b1;border-left:10px solid #36c;background-color:#fbfbfb;box-sizing:border-box}.mw-parser-output .ambox+link+.ambox,.mw-parser-output .ambox+link+style+.ambox,.mw-parser-output .ambox+link+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+style+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+link+.ambox{margin-top:-1px}html body.mediawiki .mw-parser-output .ambox.mbox-small-left{margin:4px 1em 4px 0;overflow:hidden;width:238px;border-collapse:collapse;font-size:88%;line-height:1.25em}.mw-parser-output .ambox-speedy{border-left:10px solid #b32424;background-color:#fee7e6}.mw-parser-output .ambox-delete{border-left:10px solid #b32424}.mw-parser-output .ambox-content{border-left:10px solid #f28500}.mw-parser-output .ambox-style{border-left:10px solid #fc3}.mw-parser-output .ambox-move{border-left:10px solid #9932cc}.mw-parser-output .ambox-protection{border-left:10px solid #a2a9b1}.mw-parser-output .ambox .mbox-text{border:none;padding:0.25em 0.5em;width:100%}.mw-parser-output .ambox .mbox-image{border:none;padding:2px 0 2px 0.5em;text-align:center}.mw-parser-output .ambox .mbox-imageright{border:none;padding:2px 0.5em 2px 0;text-align:center}.mw-parser-output .ambox .mbox-empty-cell{border:none;padding:0;width:1px}.mw-parser-output .ambox .mbox-image-div{width:52px}@media(min-width:720px){.mw-parser-output .ambox{margin:0 10%}}@media print{body.ns-0 .mw-parser-output .ambox{display:none!important}}</style><table class="box-Empty_section plainlinks metadata ambox mbox-small-left ambox-content" role="presentation"><tbody><tr><td class="mbox-image"><a href="/wiki/File:Wiki_letter_w_cropped.svg" class="mw-file-description"><img alt="[icon]" src="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/20px-Wiki_letter_w_cropped.svg.png" decoding="async" width="20" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/30px-Wiki_letter_w_cropped.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/1c/Wiki_letter_w_cropped.svg/40px-Wiki_letter_w_cropped.svg.png 2x" data-file-width="44" data-file-height="31" /></a></td><td class="mbox-text"><div class="mbox-text-span">This section is empty. You can help by <a class="external text" href="https://en.wikipedia.org/w/index.php?title=Thalassemia&action=edit&section=">adding to it</a>. (October 2024)</div></td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="References">References</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=24" title="Edit section: References">edit</a>]</div> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-NIH2012Sym-1">^ <a href="#cite_ref-NIH2012Sym_1-0">a</a> <a href="#cite_ref-NIH2012Sym_1-1">b</a> <a href="#cite_ref-NIH2012Sym_1-2">c</a> <a href="#cite_ref-NIH2012Sym_1-3">d</a> <a href="#cite_ref-NIH2012Sym_1-4">e</a> <a href="#cite_ref-NIH2012Sym_1-5">f</a> <a href="#cite_ref-NIH2012Sym_1-6">g</a> <a href="#cite_ref-NIH2012Sym_1-7">h</a> <style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/signs">"What Are the Signs and Symptoms of Thalassemias?"</a>. 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Retrieved 20 August 2022.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=FDA+Approves+First+Cell-Based+Gene+Therapy+to+Treat+Adult+and+Pediatric+Patients+with+Beta-thalassemia+Who+Require+Regular+Blood+Transfusions&rft.date=2022-08-17&rft_id=https%3A%2F%2Fwww.fda.gov%2Fnews-events%2Fpress-announcements%2Ffda-approves-first-cell-based-gene-therapy-treat-adult-and-pediatric-patients-beta-thalassemia-who&rfr_id=info%3Asid%2Fen.wikipedia.org%3AThalassemia" class="Z3988"> <img alt="Public Domain" src="//upload.wikimedia.org/wikipedia/en/thumb/6/62/PD-icon.svg/12px-PD-icon.svg.png" decoding="async" width="12" height="12" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/6/62/PD-icon.svg/18px-PD-icon.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/6/62/PD-icon.svg/24px-PD-icon.svg.png 2x" data-file-width="196" data-file-height="196" /> This article incorporates text from this source, which is in the <a href="/wiki/Public_domain" title="Public domain">public domain</a>. </li> <li id="cite_note-59"><a href="#cite_ref-59">^</a> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBiffi2018" class="citation journal cs1">Biffi, A (19 April 2018). 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Retrieved 8 December 2023.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=MHRA+authorises+world-first+gene+therapy+that+aims+to+cure+sickle-cell+disease+and+transfusion-dependent+%CE%B2-thalassemia&rft.date=2023-11-16&rft_id=https%3A%2F%2Fwww.gov.uk%2Fgovernment%2Fnews%2Fmhra-authorises-world-first-gene-therapy-that-aims-to-cure-sickle-cell-disease-and-transfusion-dependent-thalassemia&rfr_id=info%3Asid%2Fen.wikipedia.org%3AThalassemia" class="Z3988"> </li> <li id="cite_note-Sheridan-62"><a href="#cite_ref-Sheridan_62-0">^</a> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSheridan2023" class="citation journal cs1">Sheridan C (November 2023). <a rel="nofollow" class="external text" href="https://www.nature.com/articles/d41587-023-00016-6">"The world's first CRISPR therapy is approved: who will receive it?"</a>. 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Retrieved 9 December 2023 – via Business Wire.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Vertex+and+CRISPR+Therapeutics+Announce+Authorization+of+the+First+CRISPR%2FCas9+Gene-Edited+Therapy%2C+Casgevy+%28exagamglogene+autotemcel%29%2C+by+the+United+Kingdom+MHRA+for+the+Treatment+of+Sickle+Cell+Disease+and+Transfusion-Dependent+Beta+Thalassemia&rft.pub=Vertex+Pharmaceuticals&rft.date=2023-11-16&rft_id=https%3A%2F%2Fwww.businesswire.com%2Fnews%2Fhome%2F20231115290500%2Fen%2F%25C2%25A0Vertex-and-CRISPR-Therapeutics-Announce-Authorization-of-the-First-CRISPRCas9-Gene-Edited-Therapy-CASGEVY%25E2%2584%25A2-exagamglogene-autotemcel-by-the-United-Kingdom-MHRA-for-the-Treatment-of-Sickle-Cell-Disease-and-Transfusion-Dependent-Beta-Thalassemia&rfr_id=info%3Asid%2Fen.wikipedia.org%3AThalassemia" class="Z3988"> </li> <li id="cite_note-FDA_PR_20231208-64">^ <a href="#cite_ref-FDA_PR_20231208_64-0">a</a> <a href="#cite_ref-FDA_PR_20231208_64-1">b</a> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapies-treat-patients-sickle-cell-disease">"FDA Approves First Gene Therapies to Treat Patients with Sickle Cell Disease"</a>. 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Annals of the New York Academy of Sciences. 1054 (1): 18–24. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/2005NYASA1054...18V">2005NYASA1054...18V</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1196%2Fannals.1345.003">10.1196/annals.1345.003</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1749-6632">1749-6632</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16339647">16339647</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:26329509">26329509</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Annals+of+the+New+York+Academy+of+Sciences&rft.atitle=Changing+Patterns+of+Thalassemia+Worldwide&rft.volume=1054&rft.issue=1&rft.pages=18-24&rft.date=2005-11-01&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A26329509%23id-name%3DS2CID&rft_id=info%3Abibcode%2F2005NYASA1054...18V&rft.issn=1749-6632&rft_id=info%3Adoi%2F10.1196%2Fannals.1345.003&rft_id=info%3Apmid%2F16339647&rft.aulast=Vichinsky&rft.aufirst=Elliott+P.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AThalassemia" class="Z3988"> </li> <li id="cite_note-WEATHERALL,_D._J._2005-88">^ <a href="#cite_ref-WEATHERALL,_D._J._2005_88-0">a</a> <a href="#cite_ref-WEATHERALL,_D._J._2005_88-1">b</a> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWeatherall2005" class="citation journal cs1">Weatherall, David J. (November 2005). "Keynote Address: The Challenge of Thalassemia for the Developing Countries". Annals of the New York Academy of Sciences. 1054 (1): 11–17. <a href="/wiki/Bibcode_(identifier)" class="mw-redirect" title="Bibcode (identifier)">Bibcode</a>:<a rel="nofollow" class="external text" href="https://ui.adsabs.harvard.edu/abs/2005NYASA1054...11W">2005NYASA1054...11W</a>. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1196%2Fannals.1345.002">10.1196/annals.1345.002</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16339646">16339646</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:45770891">45770891</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Annals+of+the+New+York+Academy+of+Sciences&rft.atitle=Keynote+Address%3A+The+Challenge+of+Thalassemia+for+the+Developing+Countries&rft.volume=1054&rft.issue=1&rft.pages=11-17&rft.date=2005-11&rft_id=info%3Adoi%2F10.1196%2Fannals.1345.002&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A45770891%23id-name%3DS2CID&rft_id=info%3Apmid%2F16339646&rft_id=info%3Abibcode%2F2005NYASA1054...11W&rft.aulast=Weatherall&rft.aufirst=David+J.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AThalassemia" class="Z3988"> </li> <li id="cite_note-89"><a href="#cite_ref-89">^</a> <a rel="nofollow" class="external text" href="https://www.perseus.tufts.edu/hopper/text?doc=Perseus:text:1999.04.0057:entry=qa/lassa">θάλασσα</a>. <a href="/wiki/Henry_Liddell" title="Henry Liddell">Liddell, Henry George</a>; <a href="/wiki/Robert_Scott_(philologist)" title="Robert Scott (philologist)">Scott, Robert</a>; <a href="/wiki/A_Greek%E2%80%93English_Lexicon" title="A Greek–English Lexicon">A Greek–English Lexicon</a> at the <a href="/wiki/Perseus_Project" class="mw-redirect" title="Perseus Project">Perseus Project</a>. </li> <li id="cite_note-90"><a href="#cite_ref-90">^</a> <a rel="nofollow" class="external text" href="https://www.perseus.tufts.edu/hopper/text?doc=Perseus:text:1999.04.0057:entry=ai(=ma">αἷμα</a> in <a href="/wiki/Henry_Liddell" title="Henry Liddell">Liddell</a> and <a href="/wiki/Robert_Scott_(philologist)" title="Robert Scott (philologist)">Scott</a>. </li> <li id="cite_note-91"><a href="#cite_ref-91">^</a> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWhippleBradford1932" class="citation journal cs1">Whipple, GH; Bradford, WI (1932). "Racial or Familial Anemia of Children Associated With Fundamental Disturbances of Bone and Pigment Metabolism (Cooley-Von Jaksch)". American Journal of Diseases of Children. 44: 336–365. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchpedi.1932.01950090074009">10.1001/archpedi.1932.01950090074009</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Diseases+of+Children&rft.atitle=Racial+or+Familial+Anemia+of+Children+Associated+With+Fundamental+Disturbances+of+Bone+and+Pigment+Metabolism+%28Cooley-Von+Jaksch%29&rft.volume=44&rft.pages=336-365&rft.date=1932&rft_id=info%3Adoi%2F10.1001%2Farchpedi.1932.01950090074009&rft.aulast=Whipple&rft.aufirst=GH&rft.au=Bradford%2C+WI&rfr_id=info%3Asid%2Fen.wikipedia.org%3AThalassemia" class="Z3988"> </li> </ol></div> <ul><li>85. <a rel="nofollow" class="external free" href="https://journals.lww.com/indjem/fulltext/2013/17010/Growth_and_endocrine_disorders_in_thalassemia__The.3.aspx">https://journals.lww.com/indjem/fulltext/2013/17010/Growth_and_endocrine_disorders_in_thalassemia__The.3.aspx</a></li> <li>De Sanctis, Vincenzo; Soliman, Ashraf T.1; Elsedfy, Heba2; Skordis, Nicos3; Kattamis, Christos4; Angastiniotis, Michael5; Karimi, Mehran6; Yassin, Mohd Abdel Daem Mohd7; El Awwa, Ahmed1; Stoeva, Iva8; Raiola, Giuseppe9; Galati, Maria Concetta10; Bedair, Elsaid M.11; Fiscina, Bernadette12; El Kholy, Mohamed2 Author Information Indian Journal of Endocrinology and Metabolism 17(1):p 8-18, Jan–Feb 2013. | DOI: 10.4103/2230-8210.107808</li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2>[<a href="/w/index.php?title=Thalassemia&action=edit&section=25" title="Edit section: External links">edit</a>]</div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output 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dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q185137" class="extiw" title="d:Q185137">D</a></div><div class="hlist" style="text-align:left;"><ul><li><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-11" title="ICD-11">11</a>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse/latest-release/mms/en#330259189">3A50</a></li><li><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D56">D56</a></li><li><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=282.4">282.4</a></li><li><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a>: <a rel="nofollow" class="external text" href="https://omim.org/entry/141800">141800</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/141850">141850</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/142310">142310</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/604131">604131</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/141800">141800</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/141850">141850</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/142310">142310</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/604131">604131</a></li><li><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D013789">D013789</a></li><li><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb448.htm">448</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/000587.htm">000587</a></li><li><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/958850-overview">article/958850</a> <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/206490-overview">article/206490</a> <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/955496-overview">article/955496</a> <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/396792-overview">article/396792</a></li><li><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a>: <a rel="nofollow" class="external text" href="https://patient.info/doctor/thalassaemia-pro">Thalassemia</a></li><li><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1435/">Alpha-Thalassemia</a><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1426/">Beta-Thalassemia</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="http://www.genome.gov/10001221">Learning About Thalassemia</a> published by the National Human Genome Research Institute.</li></ul> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_red_blood_cells" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link 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cell">red blood cells</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">↑</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Polycythemia" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Polycythemia" title="Polycythemia">Polycythemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Polycythemia_vera" title="Polycythemia vera">Polycythemia vera</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">↓</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Anemia" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anemia" title="Anemia">Anemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Nutritional_anemia" title="Nutritional anemia">Nutritional</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Microcytic_anemia" title="Microcytic anemia">Micro-</a>: <a href="/wiki/Iron-deficiency_anemia" title="Iron-deficiency anemia">Iron-deficiency anemia</a> <ul><li><a href="/wiki/Plummer%E2%80%93Vinson_syndrome" title="Plummer–Vinson syndrome">Plummer–Vinson syndrome</a></li></ul></li></ul> <ul><li><a href="/wiki/Macrocytic_anemia" title="Macrocytic anemia">Macro-</a>: <a href="/wiki/Megaloblastic_anemia" title="Megaloblastic anemia">Megaloblastic anemia</a> <ul><li><a href="/wiki/Pernicious_anemia" title="Pernicious anemia">Pernicious anemia</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hemolytic_anemia" title="Hemolytic anemia">Hemolytic</a> (mostly <a href="/wiki/Normocytic_anemia" title="Normocytic anemia">normo-</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Congenital_hemolytic_anemia" title="Congenital hemolytic anemia">Hereditary</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Enzymopathy" class="mw-redirect" title="Enzymopathy">enzymopathy</a>: <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><a href="/wiki/Glycolysis" title="Glycolysis">glycolysis</a> <ul><li><a href="/wiki/Pyruvate_kinase_deficiency" title="Pyruvate kinase deficiency">pyruvate kinase deficiency</a></li> <li><a href="/wiki/Triosephosphate_isomerase_deficiency" title="Triosephosphate isomerase deficiency">triosephosphate isomerase deficiency</a></li> <li><a href="/wiki/Hexokinase_deficiency" title="Hexokinase deficiency">hexokinase deficiency</a></li></ul></li></ul> <ul><li><a href="/wiki/Hemoglobinopathy" title="Hemoglobinopathy">hemoglobinopathy</a>: <a class="mw-selflink selflink">Thalassemia</a> <ul><li><a href="/wiki/Alpha-thalassemia" title="Alpha-thalassemia">alpha</a></li> <li><a href="/wiki/Beta_thalassemia" title="Beta thalassemia">beta</a></li> <li><a href="/wiki/Delta-thalassemia" class="mw-redirect" title="Delta-thalassemia">delta</a></li></ul></li> <li><a href="/wiki/Sickle_cell_disease" title="Sickle cell disease">Sickle cell disease</a>/<a href="/wiki/Sickle_cell_trait" title="Sickle cell trait">trait</a></li> <li><a href="/wiki/Hemoglobin_C_disease" class="mw-redirect" title="Hemoglobin C disease">Hemoglobin C disease</a></li> <li><a href="/wiki/Red_blood_cell#Membranes_and_surface_proteins" title="Red blood cell">membrane</a>: <a href="/wiki/Hereditary_spherocytosis" title="Hereditary spherocytosis">Hereditary spherocytosis</a> <ul><li><a href="/wiki/Minkowski%E2%80%93Chauffard_syndrome" class="mw-redirect" title="Minkowski–Chauffard syndrome">Minkowski–Chauffard syndrome</a></li></ul></li> <li><a href="/wiki/Hereditary_elliptocytosis" title="Hereditary elliptocytosis">Hereditary elliptocytosis</a> <ul><li><a href="/wiki/Southeast_Asian_ovalocytosis" title="Southeast Asian ovalocytosis">Southeast Asian ovalocytosis</a></li></ul></li> <li><a href="/wiki/Hereditary_stomatocytosis" title="Hereditary stomatocytosis">Hereditary stomatocytosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Acquired_hemolytic_anemia" title="Acquired hemolytic anemia">Acquired</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="AIHA" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autoimmune_hemolytic_anemia" title="Autoimmune hemolytic anemia">AIHA</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Warm_antibody_autoimmune_hemolytic_anemia" title="Warm antibody autoimmune hemolytic anemia">Warm antibody autoimmune hemolytic anemia</a></li> <li><a href="/wiki/Cold_agglutinin_disease" title="Cold agglutinin disease">Cold agglutinin disease</a></li> <li><a href="/wiki/Donath%E2%80%93Landsteiner_hemolytic_anemia" class="mw-redirect" title="Donath–Landsteiner hemolytic anemia">Donath–Landsteiner hemolytic anemia</a> <ul><li><a href="/wiki/Paroxysmal_cold_hemoglobinuria" title="Paroxysmal cold hemoglobinuria">Paroxysmal cold hemoglobinuria</a></li></ul></li> <li><a href="/wiki/Mixed_autoimmune_hemolytic_anemia" title="Mixed autoimmune hemolytic anemia">Mixed autoimmune hemolytic anemia</a></li></ul> </div></td></tr></tbody></table><div> <ul><li><a href="/wiki/Red_blood_cell#Membranes_and_surface_proteins" title="Red blood cell">membrane</a> <ul><li><a href="/wiki/Paroxysmal_nocturnal_hemoglobinuria" title="Paroxysmal nocturnal hemoglobinuria">paroxysmal nocturnal hemoglobinuria</a></li></ul></li></ul> <ul><li><a href="/wiki/Microangiopathic_hemolytic_anemia" title="Microangiopathic hemolytic anemia">Microangiopathic hemolytic anemia</a></li> <li><a href="/wiki/Thrombotic_microangiopathy" title="Thrombotic microangiopathy">Thrombotic microangiopathy</a> <ul><li><a href="/wiki/Hemolytic%E2%80%93uremic_syndrome" title="Hemolytic–uremic syndrome">Hemolytic–uremic syndrome</a></li></ul></li></ul> <ul><li><a href="/wiki/Drug-induced_autoimmune_hemolytic_anemia" title="Drug-induced autoimmune hemolytic anemia">Drug-induced autoimmune</a></li> <li><a href="/wiki/Drug-induced_nonautoimmune_hemolytic_anemia" title="Drug-induced nonautoimmune hemolytic anemia">Drug-induced nonautoimmune</a></li></ul> <ul><li><a href="/wiki/Hemolytic_disease_of_the_newborn" title="Hemolytic disease of the newborn">Hemolytic disease of the newborn</a></li></ul></div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Aplastic_anemia" title="Aplastic anemia">Aplastic</a> (mostly <a href="/wiki/Normocytic_anemia" title="Normocytic anemia">normo-</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Congenital_hypoplastic_anemia" title="Congenital hypoplastic anemia">Hereditary</a>: <a href="/wiki/Fanconi_anemia" title="Fanconi anemia">Fanconi anemia</a></li> <li><a href="/wiki/Diamond%E2%80%93Blackfan_anemia" title="Diamond–Blackfan anemia">Diamond–Blackfan anemia</a></li> <ul><li>Acquired: <a href="/wiki/Pure_red_cell_aplasia" title="Pure red cell aplasia">Pure red cell aplasia</a></li> <li><a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">Sideroblastic anemia</a></li> <li><a href="/wiki/Myelophthisic_anemia" title="Myelophthisic anemia">Myelophthisic</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Red_blood_cell_indices" title="Red blood cell indices">Blood tests</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Mean_corpuscular_volume" title="Mean corpuscular volume">Mean corpuscular volume</a> <ul><li><a href="/wiki/Normocytic_anemia" title="Normocytic anemia">normocytic</a></li> <li><a href="/wiki/Microcytic_anemia" title="Microcytic anemia">microcytic</a></li> <li><a href="/wiki/Macrocytic_anemia" title="Macrocytic anemia">macrocytic</a></li></ul></li> <li><a href="/wiki/Mean_corpuscular_hemoglobin_concentration" title="Mean corpuscular hemoglobin concentration">Mean corpuscular hemoglobin concentration</a> <ul><li><a href="/wiki/Normochromic_anemia" title="Normochromic anemia">normochromic</a></li> <li><a href="/wiki/Hypochromic_anemia" title="Hypochromic anemia">hypochromic</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Methemoglobinemia" title="Methemoglobinemia">Methemoglobinemia</a></li> <li><a href="/wiki/Sulfhemoglobinemia" title="Sulfhemoglobinemia">Sulfhemoglobinemia</a></li> <li><a href="/wiki/Reticulocytopenia" title="Reticulocytopenia">Reticulocytopenia</a></li> <li><a href="/wiki/Hereditary_persistence_of_fetal_hemoglobin" title="Hereditary persistence of fetal hemoglobin">Hereditary persistence of fetal hemoglobin</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1&useformat=desktop" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Thalassemia&oldid=1251966668">https://en.wikipedia.org/w/index.php?title=Thalassemia&oldid=1251966668</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div 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