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class="vector-toc-numb">2</span> <span>Etiology</span> </div> </a> <ul id="toc-Etiology-sublist" class="vector-toc-list"> </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"> <span class="vector-toc-numb">3</span> <span>Pathophysiology</span> </div> </a> <button aria-controls="toc-Pathophysiology-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Pathophysiology subsection</span> </button> <ul id="toc-Pathophysiology-sublist" class="vector-toc-list"> <li id="toc-Causative_genetic_mutations_and_phenotypic_expressions" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Causative_genetic_mutations_and_phenotypic_expressions"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.1</span> <span>Causative genetic mutations and phenotypic expressions</span> </div> </a> <ul id="toc-Causative_genetic_mutations_and_phenotypic_expressions-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Pathophysiology_of_mutated_erythrocytic_membrane_proteins" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Pathophysiology_of_mutated_erythrocytic_membrane_proteins"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.2</span> <span>Pathophysiology of mutated erythrocytic membrane proteins</span> </div> </a> <ul id="toc-Pathophysiology_of_mutated_erythrocytic_membrane_proteins-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Cellular_implications" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Cellular_implications"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.3</span> <span>Cellular implications</span> </div> </a> <ul id="toc-Cellular_implications-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Cardiovascular_and_organ_sequelae" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Cardiovascular_and_organ_sequelae"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.4</span> <span>Cardiovascular and organ sequelae</span> </div> </a> <ul id="toc-Cardiovascular_and_organ_sequelae-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Clinical_presentation" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Clinical_presentation"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Clinical presentation</span> </div> </a> <ul id="toc-Clinical_presentation-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Diagnostics" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnostics"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Diagnostics</span> </div> </a> <button aria-controls="toc-Diagnostics-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Diagnostics subsection</span> </button> <ul id="toc-Diagnostics-sublist" class="vector-toc-list"> <li id="toc-Laboratory_testing" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Laboratory_testing"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.1</span> <span>Laboratory testing</span> </div> </a> <ul id="toc-Laboratory_testing-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Common_laboratory_findings" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Common_laboratory_findings"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.2</span> <span>Common laboratory findings</span> </div> </a> <ul id="toc-Common_laboratory_findings-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Imaging" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Imaging"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.3</span> <span>Imaging</span> </div> </a> <ul id="toc-Imaging-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Treatment" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Treatment</span> </div> </a> <ul id="toc-Treatment-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Complications" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Complications"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Complications</span> </div> </a> <button aria-controls="toc-Complications-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Complications subsection</span> </button> <ul id="toc-Complications-sublist" class="vector-toc-list"> <li id="toc-Common_complications" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Common_complications"> <div class="vector-toc-text"> <span class="vector-toc-numb">7.1</span> <span>Common complications</span> </div> </a> <ul id="toc-Common_complications-sublist" class="vector-toc-list"> </ul> </li> </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"> <span class="vector-toc-numb">8</span> <span>Research</span> </div> </a> <ul id="toc-Research-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>See also</span> </div> </a> <ul id="toc-See_also-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"> <span class="vector-toc-numb">10</span> <span>References</span> </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"> <span class="vector-toc-numb">11</span> <span>External links</span> </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" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </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"><span class="mw-page-title-main">Hereditary spherocytosis</span></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 18 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-18" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">18 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D9%83%D8%AB%D8%B1%D8%A9_%D8%A7%D9%84%D9%83%D8%B1%D9%8A%D8%A7%D8%AA_%D8%A7%D9%84%D8%AD%D9%85%D8%B1_%D8%A7%D9%84%D9%83%D8%B1%D9%88%D9%8A%D8%A9_%D8%A7%D9%84%D9%88%D8%B1%D8%A7%D8%AB%D9%8A%D8%A9" title="كثرة الكريات الحمر الكروية الوراثية – Arabic" lang="ar" hreflang="ar" data-title="كثرة الكريات الحمر الكروية الوراثية" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Esferocitosi_heredit%C3%A0ria" title="Esferocitosi hereditària – Catalan" lang="ca" hreflang="ca" data-title="Esferocitosi hereditària" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Kugelzellenan%C3%A4mie" title="Kugelzellenanämie – German" lang="de" hreflang="de" data-title="Kugelzellenanämie" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Esferocitosis_hereditaria" title="Esferocitosis hereditaria – Spanish" lang="es" hreflang="es" data-title="Esferocitosis hereditaria" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Maladie_de_Minkowski-Chauffard" title="Maladie de Minkowski-Chauffard – French" lang="fr" hreflang="fr" data-title="Maladie de Minkowski-Chauffard" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EC%9C%A0%EC%A0%84%EC%84%B1_%EA%B5%AC%EC%83%81%EC%A0%81%ED%98%88%EA%B5%AC%EC%A6%9D" title="유전성 구상적혈구증 – Korean" lang="ko" hreflang="ko" data-title="유전성 구상적혈구증" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sferocitosi_ereditaria" title="Sferocitosi ereditaria – Italian" lang="it" hreflang="it" data-title="Sferocitosi ereditaria" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%A1%D7%A4%D7%A8%D7%95%D7%A6%D7%99%D7%98%D7%95%D7%96%D7%99%D7%A1_%D7%AA%D7%95%D7%A8%D7%A9%D7%AA%D7%99" title="ספרוציטוזיס תורשתי – Hebrew" lang="he" hreflang="he" data-title="ספרוציטוזיס תורשתי" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-lt mw-list-item"><a href="https://lt.wikipedia.org/wiki/%C4%AEgimta_sferocitoz%C4%97" title="Įgimta sferocitozė – Lithuanian" lang="lt" hreflang="lt" data-title="Įgimta sferocitozė" data-language-autonym="Lietuvių" data-language-local-name="Lithuanian" class="interlanguage-link-target"><span>Lietuvių</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Congenitale_sferocytose" title="Congenitale sferocytose – Dutch" lang="nl" hreflang="nl" data-title="Congenitale sferocytose" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E9%81%BA%E4%BC%9D%E6%80%A7%E7%90%83%E7%8A%B6%E8%B5%A4%E8%A1%80%E7%90%83%E7%97%87" title="遺伝性球状赤血球症 – Japanese" lang="ja" hreflang="ja" data-title="遺伝性球状赤血球症" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Sferocytoza_wrodzona" title="Sferocytoza wrodzona – Polish" lang="pl" hreflang="pl" data-title="Sferocytoza wrodzona" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Esferocitose_heredit%C3%A1ria" title="Esferocitose hereditária – Portuguese" lang="pt" hreflang="pt" data-title="Esferocitose hereditária" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%9D%D0%B0%D1%81%D0%BB%D0%B5%D0%B4%D1%81%D1%82%D0%B2%D0%B5%D0%BD%D0%BD%D1%8B%D0%B9_%D0%BC%D0%B8%D0%BA%D1%80%D0%BE%D1%81%D1%84%D0%B5%D1%80%D0%BE%D1%86%D0%B8%D1%82%D0%BE%D0%B7" title="Наследственный микросфероцитоз – Russian" lang="ru" hreflang="ru" data-title="Наследственный микросфероцитоз" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%A1%D1%84%D0%B5%D1%80%D0%BE%D1%86%D0%B8%D1%82%D0%BE%D0%B7%D0%B0" title="Сфероцитоза – Serbian" lang="sr" hreflang="sr" data-title="Сфероцитоза" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Heredit%C3%A4r_sf%C3%A4rocytos" title="Hereditär sfärocytos – Swedish" lang="sv" hreflang="sv" data-title="Hereditär sfärocytos" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A1%D0%BF%D0%B0%D0%B4%D0%BA%D0%BE%D0%B2%D0%B8%D0%B9_%D0%BC%D1%96%D0%BA%D1%80%D0%BE%D1%81%D1%84%D0%B5%D1%80%D0%BE%D1%86%D0%B8%D1%82%D0%BE%D0%B7_%D0%9C%D1%96%D0%BD%D0%BA%D0%BE%D0%B2%D1%81%D1%8C%D0%BA%D0%BE%D0%B3%D0%BE%E2%80%94%D0%A8%D0%BE%D1%84%D1%84%D0%B0%D1%80%D0%B0" title="Спадковий мікросфероцитоз Мінковського—Шоффара – Ukrainian" lang="uk" hreflang="uk" data-title="Спадковий мікросфероцитоз Мінковського—Шоффара" data-language-autonym="Українська" data-language-local-name="Ukrainian" class="interlanguage-link-target"><span>Українська</span></a></li><li class="interlanguage-link interwiki-zh-yue mw-list-item"><a href="https://zh-yue.wikipedia.org/wiki/%E7%90%83%E5%BD%A2%E7%B4%85%E8%A1%80%E7%90%83%E5%A2%9E%E5%A4%9A%E7%97%87" title="球形紅血球增多症 – Cantonese" lang="yue" hreflang="yue" data-title="球形紅血球增多症" data-language-autonym="粵語" data-language-local-name="Cantonese" class="interlanguage-link-target"><span>粵語</span></a></li> </ul> <div 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<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">Genetic disorder causing red blood cells to be spherical</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">This article is about the hereditary hematologic manifestation of spherocytic disorders. For details that pertain to the mechanical state of spherocytic cells, see <a href="/wiki/Spherocytosis" title="Spherocytosis">Spherocytosis</a>.</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">Hereditary spherocytosis</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Minkowski–Chauffard syndrome</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Hereditary_Spherocytosis_smear_2010-03-17.JPG" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Hereditary_Spherocytosis_smear_2010-03-17.JPG/220px-Hereditary_Spherocytosis_smear_2010-03-17.JPG" decoding="async" width="220" height="165" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/69/Hereditary_Spherocytosis_smear_2010-03-17.JPG/330px-Hereditary_Spherocytosis_smear_2010-03-17.JPG 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/69/Hereditary_Spherocytosis_smear_2010-03-17.JPG/440px-Hereditary_Spherocytosis_smear_2010-03-17.JPG 2x" data-file-width="1712" data-file-height="1281" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">Peripheral blood smear from patient with hereditary spherocytosis</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></tbody></table> <p><b>Hereditary spherocytosis</b> (<b>HS</b>) is a congenital hemolytic disorder wherein a genetic <a href="/wiki/Genetic_mutation" class="mw-redirect" title="Genetic mutation">mutation</a> coding for a structural membrane protein <a href="/wiki/Phenotype" title="Phenotype">phenotype</a> causes the <a href="/wiki/Red_blood_cells" class="mw-redirect" title="Red blood cells">red blood cells</a> to be sphere-shaped (<a href="/wiki/Spherocytosis" title="Spherocytosis">spherocytosis</a>), rather than the normal biconcave disk shape. This abnormal shape interferes with the cells' ability to flex during blood circulation, and also makes them more prone to <a href="/wiki/Hemolysis" title="Hemolysis">rupture</a><sup id="cite_ref-isbn0-7216-0187-1_1-0" class="reference"><a href="#cite_note-isbn0-7216-0187-1-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> under osmotic stress, mechanical stress, or both. Cells with the dysfunctional proteins are degraded in the <a href="/wiki/Spleen" title="Spleen">spleen</a>, which leads to a shortage of erythrocytes and results in <a href="/wiki/Hemolytic_anemia" title="Hemolytic anemia">hemolytic anemia</a>. </p><p>HS was first described in 1871, and is the most common cause of inherited hemolysis in populations of northern European descent, with an incidence of 1 in 5000 births. The clinical severity of HS varies from mild (symptom-free carrier), to moderate (anemic, jaundiced, and with splenomegaly), to severe (hemolytic crisis, in-utero hydrops fetalis), because HS is caused by genetic mutations in a multitude of structural membrane proteins and exhibits <a href="/wiki/Incomplete_penetrance" class="mw-redirect" title="Incomplete penetrance">incomplete penetrance</a> in its <a href="/wiki/Expression_(genetics)" class="mw-redirect" title="Expression (genetics)">expression</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Early symptoms include anemia, jaundice, <a href="/wiki/Splenomegaly" title="Splenomegaly">splenomegaly</a>, and <a href="/wiki/Fatigue_(medical)" class="mw-redirect" title="Fatigue (medical)">fatigue</a>.<sup id="cite_ref-Dx&TxGuidelines_2-0" class="reference"><a href="#cite_note-Dx&TxGuidelines-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Acute cases can threaten to cause <a href="/wiki/Hypoxia_(medical)" class="mw-redirect" title="Hypoxia (medical)">hypoxia</a> secondary to <a href="/wiki/Anemia" title="Anemia">anemia</a> and acute <a href="/wiki/Kernicterus" title="Kernicterus">kernicterus</a> through high blood levels of <a href="/wiki/Bilirubin" title="Bilirubin">bilirubin</a>, particularly in newborns. Most cases can be detected soon after birth. Testing for HS is available for the children of affected adults. Occasionally, the disease will go unnoticed until the child is about 4 or 5 years of age. A person may also be a carrier of the disease and show no signs or symptoms of the disease. Late complications may result in the development of <a href="/wiki/Pigmented_gallstones" class="mw-redirect" title="Pigmented gallstones">pigmented gallstones</a>, which is secondary to the detritus of the broken-down blood cells (unconjugated or indirect <a href="/wiki/Bilirubin" title="Bilirubin">bilirubin</a>) accumulating within the <a href="/wiki/Gallbladder" title="Gallbladder">gallbladder</a>. Also, patients who are heterozygous for a <a href="/wiki/Hemochromatosis" class="mw-redirect" title="Hemochromatosis">hemochromatosis</a> gene may exhibit iron overload, despite the hemochromatosis genes being recessive.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> In chronic patients, an <a href="/wiki/Infection" title="Infection">infection</a> or other illness can cause an increase in the destruction of red blood cells, resulting in the appearance of acute symptoms – a <i><a href="/wiki/Hemolytic_crisis" class="mw-redirect" title="Hemolytic crisis">hemolytic crisis</a></i>. On a <a href="/wiki/Blood_film" class="mw-redirect" title="Blood film">blood smear</a>, <a href="/wiki/Howell-Jolly_bodies" class="mw-redirect" title="Howell-Jolly bodies">Howell-Jolly bodies</a> may be seen within red blood cells. Primary treatment for patients with symptomatic HS has been total <a href="/wiki/Splenectomy" title="Splenectomy">splenectomy</a>, which eliminates the hemolytic process, allowing for normal <a href="/wiki/Hemoglobin" title="Hemoglobin">hemoglobin</a>, <a href="/wiki/Reticulocyte" title="Reticulocyte">reticulocyte</a> and <a href="/wiki/Bilirubin" title="Bilirubin">bilirubin</a> levels. The resultant asplenic patient is susceptible to encapsulated bacterial infections, the risk of which can be reduced with vaccination. If other symptoms such as abdominal pain persist, the removal of the gallbladder may be warranted for symptomatic <a href="/wiki/Gallstone" title="Gallstone">cholelithiasis</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=1" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Hereditary spherocytosis is the heritable hemolytic disorder, affecting 1 in 2,000 people of Northern European ancestry.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> According to <i><a href="/wiki/Harrison%27s_Principles_of_Internal_Medicine" title="Harrison's Principles of Internal Medicine">Harrison's Principles of Internal Medicine</a></i>, the frequency is at least 1 in 5,000 within the United States of America.<sup id="cite_ref-HarrisonsInternal_6-0" class="reference"><a href="#cite_note-HarrisonsInternal-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> While HS is most commonly (though not exclusively) found in Northern European and Japanese families, an estimated 25% of cases are due to spontaneous <a href="/wiki/Mutation" title="Mutation">mutations</a>. </p> <div class="mw-heading mw-heading2"><h2 id="Etiology">Etiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=2" title="Edit section: Etiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Hereditary spherocytosis is an erythrocytic disorder of that affects the following red cell membrane proteins in a congenital fashion: </p> <ul><li><a href="/wiki/Spectrin" title="Spectrin">Spectrin</a> (alpha and beta)<sup id="cite_ref-pmid9887280_7-0" class="reference"><a href="#cite_note-pmid9887280-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Ankyrin" title="Ankyrin">Ankyrin</a><sup id="cite_ref-pmid9887280_7-1" class="reference"><a href="#cite_note-pmid9887280-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Band_3_anion_transport_protein" title="Band 3 anion transport protein">Band-3 protein</a><sup id="cite_ref-pmid18940465_8-0" class="reference"><a href="#cite_note-pmid18940465-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Protein_4.2" title="Protein 4.2">Protein-4.2</a><sup id="cite_ref-pmid18940465_8-1" class="reference"><a href="#cite_note-pmid18940465-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li> <li>Lesser proteins of significance<sup id="cite_ref-HarrisonsInternal_6-1" class="reference"><a href="#cite_note-HarrisonsInternal-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li></ul> <p>Hereditary spherocytosis can be an <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> or <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> trait.<sup id="cite_ref-pmid15071790_9-0" class="reference"><a href="#cite_note-pmid15071790-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> The autosomal recessive inheritance pattern accounts for close to 25% of the clinical cases. The autosomal dominant inheritance pattern accounts for over 75% of the clinical cases. Many positive individuals will not present clinically, thus the etiologic data may be artificially skewed towards the more prominent dominant forms. These dominant forms tend to leave a family history that yields generational splenectomies and black gallstones cholelithiasis. Lastly, an estimated 25% of cases are due to spontaneous <a href="/wiki/Mutation" title="Mutation">mutations</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=3" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Causative_genetic_mutations_and_phenotypic_expressions">Causative genetic mutations and phenotypic expressions</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=4" title="Edit section: Causative genetic mutations and phenotypic expressions"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for the red blood cell proteins <a href="/wiki/Spectrin" title="Spectrin">spectrin</a> (<a href="/wiki/SPTA1" class="mw-redirect" title="SPTA1">alpha</a> and <a href="/wiki/SPTB" title="SPTB">beta</a>), <a href="/wiki/Ankyrin" title="Ankyrin">ankyrin</a>,<sup id="cite_ref-pmid9887280_7-2" class="reference"><a href="#cite_note-pmid9887280-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Band_3" class="mw-redirect" title="Band 3">band 3</a> protein, <a href="/wiki/Protein_4.2" title="Protein 4.2">protein 4.2</a>,<sup id="cite_ref-pmid18940465_8-2" class="reference"><a href="#cite_note-pmid18940465-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> and other red blood cell membrane proteins:<sup id="cite_ref-HarrisonsInternal_6-2" class="reference"><a href="#cite_note-HarrisonsInternal-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <table class="wikitable" style="style="> <tbody><tr> <th rowspan="2">Hereditary Spherocytosis Type </th> <th colspan="3">Genotypic Etiology </th> <th>Phenotypic Expression </th></tr> <tr> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a>* </th> <th>Gene </th> <th>Locus </th> <th>Erythrocyte membrane protein Affected </th></tr> <tr> <td>HS-1 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/182900">182900</a> </td> <td><i><a href="/wiki/ANK1" class="mw-redirect" title="ANK1">ANK1</a></i> </td> <td>8p11.2 </td> <td>Ankyrin </td></tr> <tr> <td>HS-2 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/182870">182870</a> </td> <td><i><a href="/wiki/SPTB" title="SPTB">SPTB</a></i> </td> <td>14q22-q23 </td> <td>Spectrin (Beta)* </td></tr> <tr> <td>HS-3 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/270970">270970</a> </td> <td><i><a href="/wiki/Spectrin,_alpha_1" title="Spectrin, alpha 1">SPTA</a></i> </td> <td>1q21 </td> <td>Spectrin (Alpha-1)* </td></tr> <tr> <td>HS-4 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612653">612653</a> </td> <td><i><a href="/wiki/SLC4A1" class="mw-redirect" title="SLC4A1">SLC4A1</a></i> </td> <td>17q21-q22 </td> <td>Band-3 Protein </td></tr> <tr> <td>HS-5 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612690">612690</a> </td> <td><i><a href="/wiki/EPB42" class="mw-redirect" title="EPB42">EPB42</a></i> </td> <td>15q15 </td> <td>Protein-4.2 </td></tr></tbody></table> <p><i>*Online Mendelian Inheritance in Man (<a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a>). The Alpha-1 refers the alpha-1 subunit of the spectrin protein. The Beta refers the beta subunit of the spectrin protein.</i> </p><p>These genetic mutations are acted upon and executed by <a href="/w/index.php?title=Erythrocyte_progenitor&action=edit&redlink=1" class="new" title="Erythrocyte progenitor (page does not exist)">erythrocyte progenitor</a> cells within the bone marrow, where red blood cells are normally produced in the non-pathological state (see <a href="/wiki/Extramedullary_hematopoiesis" title="Extramedullary hematopoiesis">Extramedullary hematopoiesis</a> for pathological production outside of the bone marrow). </p> <div class="mw-heading mw-heading3"><h3 id="Pathophysiology_of_mutated_erythrocytic_membrane_proteins">Pathophysiology of mutated erythrocytic membrane proteins</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=5" title="Edit section: Pathophysiology of mutated erythrocytic membrane proteins"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>These proteins are necessary to maintain the normal shape of a red blood cell, which is a biconcave disk. The integrating protein that is most commonly defective is <a href="/wiki/Spectrin" title="Spectrin">spectrin</a> which is responsible for incorporation and binding of spectrin to the greater actin cytoskeleton. This dysfunction of cytoskeletal instabilities ensue, and leave the plasma membrane of the cell less supported and/or weakened.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <table class="wikitable"> <caption> </caption> <tbody><tr> <th>Erythrocyte Membrane Protein </th> <th>Protein Function Compromised </th> <th>Process Effect </th> <th>Pathogenesis of HS </th> <th>Likelihood </th> <th>Mechanical Effect <p>(In Order) </p> </th></tr> <tr> <td><a href="/wiki/Spectrin" title="Spectrin">Spectrin</a> (<a href="/wiki/Spectrin,_alpha_1" title="Spectrin, alpha 1">Alpha-1</a>) </td> <td>Alpha-1 subunit actin association </td> <td>Failure in plasma membrane tethering to actin <a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton</a>. </td> <td><figure class="mw-default-size mw-halign-left mw-image-border" typeof="mw:File/Frameless"><a href="/wiki/File:Spectrin_Alpha_Deficiency.jpg" class="mw-file-description" title="Caption: The deficiency of alpha-1 subunits in spectrin protein network (top). The resulting failed or weakened tethering of spectrin interior to the plasma membrane to the greater actin cytoskeleton (bottom)."><img alt="HS Alpha-1 deficiency." src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/Spectrin_Alpha_Deficiency.jpg/220px-Spectrin_Alpha_Deficiency.jpg" decoding="async" width="220" height="329" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/Spectrin_Alpha_Deficiency.jpg/330px-Spectrin_Alpha_Deficiency.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c7/Spectrin_Alpha_Deficiency.jpg/440px-Spectrin_Alpha_Deficiency.jpg 2x" data-file-width="2204" data-file-height="3300" /></a><figcaption>Caption: <i>The deficiency of <b>alpha-1</b> subunits in spectrin protein network (top). The resulting <b>failed or weakened tethering</b> of spectrin interior to the plasma membrane to the greater actin cytoskeleton (bottom).</i></figcaption></figure>Caption: <i>The deficiency of <b>alpha-1</b> subunits in spectrin protein network (top). The resulting <b>failed or weakened tethering</b> of Spectrin interior to the plasma membrane to the greater actin cytoskeleton (bottom).</i> </td> <td rowspan="2">Most Common </td> <td rowspan="5"> <ol><li>Erythrocytic plasma membrane loss.</li> <li>Formation of spherocytes.</li> <li>Decreased surface area.</li> <li>Decreased plasma membrane compliance.</li> <li>Fragility</li> <li>Hemolysis</li></ol> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Micrograph_of_a_spherocyte.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/a7/Micrograph_of_a_spherocyte.jpg/220px-Micrograph_of_a_spherocyte.jpg" decoding="async" width="220" height="197" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/a7/Micrograph_of_a_spherocyte.jpg/330px-Micrograph_of_a_spherocyte.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/a/a7/Micrograph_of_a_spherocyte.jpg 2x" data-file-width="332" data-file-height="297" /></a><figcaption>Micrograph of a spherocyte (center).</figcaption></figure> </td></tr> <tr> <td><a href="/wiki/Spectrin" title="Spectrin">Spectrin (Beta)</a> </td> <td><a href="/wiki/Hydrophobic_interactions" class="mw-redirect" title="Hydrophobic interactions">Hydrophobic interactions</a> and electrostatic attraction to ankyrin and actin </td> <td>Failure in plasma membrane tethering to actin cytoskeleton. </td> <td><figure class="mw-default-size mw-halign-left mw-image-border" typeof="mw:File/Frameless"><a href="/wiki/File:Spectrin_Beta_Deficiency.jpg" class="mw-file-description" title="Caption: The deficiency of Beta subunits in spectrin protein network (top). The resulting failed or weakened tethering of spectrin interior to the plasma membrane to the greater actin cytoskeleton (bottom)."><img alt="HS Beta deficiency." src="//upload.wikimedia.org/wikipedia/commons/thumb/e/e7/Spectrin_Beta_Deficiency.jpg/220px-Spectrin_Beta_Deficiency.jpg" decoding="async" width="220" height="329" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/e7/Spectrin_Beta_Deficiency.jpg/330px-Spectrin_Beta_Deficiency.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/e7/Spectrin_Beta_Deficiency.jpg/440px-Spectrin_Beta_Deficiency.jpg 2x" data-file-width="2204" data-file-height="3300" /></a><figcaption>Caption: <i>The deficiency of <b>Beta</b> subunits in spectrin protein network (top). The resulting <b>failed</b> or <b>weakened tethering</b> of spectrin interior to the plasma membrane to the greater actin cytoskeleton (bottom).</i></figcaption></figure>Caption: <i>The deficiency of <b>Beta</b> subunits in spectrin protein network (top). The resulting <b>failed or</b> <b>weakened tethering</b> of Spectrin interior to the plasma membrane to the greater actin cytoskeleton (bottom).</i> </td></tr> <tr> <td><a href="/wiki/Ankyrin" title="Ankyrin">Ankyrin</a> </td> <td>Hydrophobic interactions and electrostatic attraction to Beta subunit </td> <td>Failure to mediate anchorage of integral plasma membrane proteins to spectrin. </td> <td><figure class="mw-default-size mw-halign-left mw-image-border" typeof="mw:File/Frameless"><a href="/wiki/File:Ankyrin_Deficiency.jpg" class="mw-file-description" title="Caption: The deficiency of ankyrin that normally associates with plasma membrane proteins (top). The resulting failed or weakened anchorage of spectin to interior plasma membrane, and subsequently weakened association between the greater actin cytoskeleton and the plasma membrane (bottom)."><img alt="HS Ankyrin deficiency." src="//upload.wikimedia.org/wikipedia/commons/thumb/b/bd/Ankyrin_Deficiency.jpg/220px-Ankyrin_Deficiency.jpg" decoding="async" width="220" height="329" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/bd/Ankyrin_Deficiency.jpg/330px-Ankyrin_Deficiency.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/bd/Ankyrin_Deficiency.jpg/440px-Ankyrin_Deficiency.jpg 2x" data-file-width="2204" data-file-height="3300" /></a><figcaption>Caption: <i>The deficiency of <b>ankyrin</b> that normally associates with plasma membrane proteins (top). The resulting failed or <b>weakened anchorage of spectin</b> to interior plasma membrane, and subsequently weakened association between the greater actin cytoskeleton and the plasma membrane (bottom).</i></figcaption></figure>Caption: <i>The deficiency of <b>ankyrin</b> that normally associates with plasma membrane proteins (top). The resulting failed or <b>weakened anchorage of spectrin</b> to interior plasma membrane, and subsequently weakened association between the greater actin cytoskeleton and the plasma membrane (bottom).</i> </td> <td>Common </td></tr> <tr> <td><a href="/wiki/Band_3_anion_transport_protein" title="Band 3 anion transport protein">Band-3</a> </td> <td>Failure to mediate the <a href="/wiki/Active_transport#Antiport" title="Active transport">exchange</a> of <a href="/wiki/Chloride" title="Chloride">chloride</a> (Cl<sup>−</sup>) with <a href="/wiki/Bicarbonate" title="Bicarbonate">bicarbonate</a> (HCO<sub>3</sub><sup>−</sup>) across <a href="/wiki/Plasma_membrane" class="mw-redirect" title="Plasma membrane">plasma membranes</a>. </td> <td>Deficiency causes reduced lipid-stabilization at the plasma membrane. </td> <td><figure class="mw-default-size mw-halign-left mw-image-border" typeof="mw:File/Frameless"><a href="/wiki/File:Band-3_Protein_Deficiency.jpg" class="mw-file-description" title="Caption: The deficiency of band-3 protein (top). The resulting destabilized plasma membrane without integral band-3 PROTEIN for association with protein-4.2 and subsequently ANKYRIN (bottom)."><img alt="HS Band-3 deficiency." src="//upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Band-3_Protein_Deficiency.jpg/220px-Band-3_Protein_Deficiency.jpg" decoding="async" width="220" height="331" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Band-3_Protein_Deficiency.jpg/330px-Band-3_Protein_Deficiency.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/bb/Band-3_Protein_Deficiency.jpg/440px-Band-3_Protein_Deficiency.jpg 2x" data-file-width="2194" data-file-height="3300" /></a><figcaption>Caption: <i>The deficiency of <b>band-3 protein</b> (top). The resulting <b>destabilized plasma membrane</b> without integral band-3 PROTEIN for association with protein-4.2 and subsequently ANKYRIN (bottom).</i></figcaption></figure>Caption: <i>The deficiency of <b>band-3 protein</b> (top). The resulting <b>destabilized plasma membrane</b> without integral band-3 protein for association with protein-4.2 and subsequently ankyrin (bottom).</i> </td> <td>Less Common </td></tr> <tr> <td><a href="/wiki/Protein_4.2" title="Protein 4.2">Protein-4.2</a> </td> <td>Failure of <a href="/wiki/Adenosine_triphosphate" title="Adenosine triphosphate">ATP</a> binding that regulates the association of band-3 with ankyrin. </td> <td>Reduced density of plasma cell membrane skeleton, destabilizing the plasma lipid bilayer, thus releasing band-3 protein-containing microvesicles. </td> <td><figure class="mw-default-size mw-halign-left mw-image-border" typeof="mw:File/Frameless"><a href="/wiki/File:Protein-4.2_Deficiency.jpg" class="mw-file-description" title="Caption: The deficiency of protein-4.2 (top). The resulting inability of the greater actin cytoskeleton to associate with the plasma membrane via spectrin and ankyrin, and the subsequent loss of band-3 protein within microvesicles (bottom)."><img alt="HS Protein-4.2 deficiency." src="//upload.wikimedia.org/wikipedia/commons/thumb/7/7e/Protein-4.2_Deficiency.jpg/220px-Protein-4.2_Deficiency.jpg" decoding="async" width="220" height="330" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/7e/Protein-4.2_Deficiency.jpg/330px-Protein-4.2_Deficiency.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/7e/Protein-4.2_Deficiency.jpg/440px-Protein-4.2_Deficiency.jpg 2x" data-file-width="2200" data-file-height="3300" /></a><figcaption>Caption: <i>The deficiency of <b>protein-4.2</b> (top). The resulting <b>inability</b> of the greater actin cytoskeleton to associate with the plasma membrane via spectrin and ankyrin, and the subsequent loss of <b>band-3 protein within microvesicles</b> (bottom).</i></figcaption></figure>Caption: <i>The deficiency of <b>protein-4.2</b> (top). The resulting <b>inability</b> of the greater actin cytoskeleton to associate with the plasma membrane via spectrin and ankyrin, and the subsequent loss of <b>Band-3 Protein within microvesicles</b> (bottom).</i> </td> <td>Least Common </td></tr></tbody></table> <div class="mw-heading mw-heading3"><h3 id="Cellular_implications">Cellular implications</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=6" title="Edit section: Cellular implications"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>A secondary defect in hereditary spherocytosis is a deficiency of membrane surface area. The decrease in surface area leads to less efficient gas exchange of the erythrocyte at the <a href="/wiki/Pulmonary_alveolus" title="Pulmonary alveolus">alveoli</a> of the lungs and throughout circulation. Decreased surface area may be produced by two different mechanisms: </p> <ol><li>Defects of spectrin, ankyrin (most commonly), or PROTEIN 4.2 lead to reduced structural integrity of the plasma membrane, destabilizing the overlying lipid bilayer, and releasing <a href="/wiki/Band_3" class="mw-redirect" title="Band 3">band 3</a>-containing <a href="/wiki/Microvesicles" class="mw-redirect" title="Microvesicles">microvesicles</a>. Band-3 is important for gas exchange (as seen above).</li> <li>Defects of band 3 lead to band 3 deficiency and loss of its lipid-stabilizing effect within the plasma membrane lipid bilayer. This results in the release of band 3-free microvesicles.</li></ol> <p>Both pathways result in compromised plasma membrane integrity, decreased surface area, and formation of spherocytes with decreased mechanical compliance during circulation.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Cardiovascular_and_organ_sequelae">Cardiovascular and organ sequelae</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=7" title="Edit section: Cardiovascular and organ sequelae"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Spherocytes have less plasma membrane compliance and fluidity, and this has implications throughout the entirety of circulation within the body, i.e. arteries, arterioles, capillaries, venules, veins, and organs. The lack of compliance and fluidity lead to a higher viscosity value for blood (thickened blood), which can have implications for both larger and smaller diameter vasculature. However, the most pronounced issues with the lack of compliance and fluidity declare themselves in the failure of the erythrocyte to deform itself when transiting arterioles, capillary beds, and venules. These vessels are smaller, and can become congested or blocked altogether. Studies have demonstrated that HS is related to deep vein thrombosis (<a href="/wiki/Deep_vein_thrombosis" title="Deep vein thrombosis">DVT</a>) and arterial <a href="/wiki/Cardiovascular_disease" title="Cardiovascular disease">cardiovascular disease</a> for this reason. </p><p>The spleen typically acts as a filter for blood, and targets pathogens and other damaged cells within circulation. Removing blood contaminants promotes entire-body homeostasis. The following facts about the spleen's role in normal body functioning are crucial to understanding the implications of HS on the overall health of the individual: </p> <ul><li>Removal of pathogens includes encapsulated bacteria, which reduces <a href="/wiki/Sepsis" title="Sepsis">sepsis</a> risk (see <a href="#Complications">§ Complications</a> below).</li> <li>Removal of damaged erythrocytes reduces iron burden from <a href="/wiki/Heme" title="Heme">heme</a> via hepatosplenic recycling, which reduces sepsis risk (see Complications below).</li> <li>Removal of damaged erythrocytes continues healthy signaling to bone marrow, where <a href="/wiki/Erythropoiesis" title="Erythropoiesis">erythropoiesis</a> replaces red blood cells lost to wear and tear.</li></ul> <p>In relation to the three facts above, the spleen misguidedly filters spherocytes – regardless of the age or functional status of the cell. The spleen is not dysfunctional itself when selecting spherocytes for destruction, as this is the regular function of the spleen both at an anatomic structure level, and at the molecular cellular level. At the anatomic level, the passage from the <a href="/wiki/Cords_of_Billroth" title="Cords of Billroth">cords of Billroth</a> into the sinusoids may be seen as a "bottleneck", where red blood cells need to be flexible in order to pass through. In HS, the erythrocytes fail to pass through <a href="/wiki/Fenestration_(cell)" class="mw-redirect" title="Fenestration (cell)">fenestrations</a>, and this is where resident splenic <a href="/wiki/Macrophage" title="Macrophage">macrophages</a> sample, or "bite", part of the stuck spherocytes' plasma membranes. The macrophages recognize that the spherocyte is not normal, and the macrophage is "programmed" to destroy irregularities filtered at the spleen from the blood. The resident splenic macrophages therefore <a href="/wiki/Phagocytosis" title="Phagocytosis">phagocytose</a> the spherocytes, causing <a href="/wiki/Extravascular_hemolysis" class="mw-redirect" title="Extravascular hemolysis">extravascular hemolysis</a>.<sup id="cite_ref-Kumar425_10-0" class="reference"><a href="#cite_note-Kumar425-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> This leads to both <a href="/wiki/Splenomegaly" title="Splenomegaly">splenomegaly</a> and anemia. Should this process continue unchecked chronically, inappropriate regulation of erythropoiesis leads to <a href="/wiki/Extramedullary_hematopoiesis" title="Extramedullary hematopoiesis">extramedullary hematopoiesis</a>. </p> <div class="mw-heading mw-heading2"><h2 id="Clinical_presentation">Clinical presentation</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=8" title="Edit section: Clinical presentation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>HS patients present in a vast array of presentations, from being asymptomatic to the extreme situations of splenic rupture, hemolytic crisis, or in-utero demise. </p> <ul><li>Asymptomatic HS (mild): 20–30% of patients.</li> <li>Infantile-onset HS (moderate): 60–75% of patients.</li> <li>Neonatal or in-utero onset HS (severe): <5% of patients.</li></ul> <p>The most common presentation will demonstrate <a href="/wiki/Jaundice" title="Jaundice">jaundice</a> (due to increased <a href="/wiki/Unconjugated_bilirubin" class="mw-redirect" title="Unconjugated bilirubin">unconjugated bilirubin</a>), <a href="/wiki/Anemia" title="Anemia">anemia</a> (with secondary pallor) and a palpable spleen, sometimes with concomitant tenderness (due to splenic congestion and splenomegaly). It is worth noting that a subsection of HS patients will also have incidental black pigmented <a href="/wiki/Gallstone" title="Gallstone">gallstones</a> made of calcium bilirubinate (a consequence of the extravascular hemolysis), and some of these patients will develop <a href="/wiki/Cholelithiasis" class="mw-redirect" title="Cholelithiasis">cholelithiasis</a> or the potential complex sequelae of this condition (e.g. <a href="/wiki/Cholecystitis" title="Cholecystitis">cholecystitis</a>, <a href="/wiki/Choledocholithiasis" class="mw-redirect" title="Choledocholithiasis">choledocholithiasis</a>, etc). </p> <div class="mw-heading mw-heading2"><h2 id="Diagnostics">Diagnostics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=9" title="Edit section: Diagnostics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Laboratory_testing">Laboratory testing</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=10" title="Edit section: Laboratory testing"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Available lab testing that may aid in the diagnosis of HS is as follows: </p> <ul><li><a href="/wiki/Peripheral_blood_smear" class="mw-redirect" title="Peripheral blood smear">Peripheral blood smear</a></li> <li>Supportive blood work: <a href="/wiki/Mean_cell_volume" class="mw-redirect" title="Mean cell volume">mean cell volume</a> (MCV), <a href="/wiki/Mean_corpuscular_hemoglobin_concentration" title="Mean corpuscular hemoglobin concentration">mean corpuscular hemoglobin concentration</a> (MCHC), <a href="/wiki/Red_blood_cell_distribution_width" title="Red blood cell distribution width">red blood cell distribution width</a> (RDW), <a href="/wiki/Red_blood_cell_count" class="mw-redirect" title="Red blood cell count">red blood cell count</a> (RBC), <a href="/wiki/Reticulocyte" title="Reticulocyte">reticulocytes</a>, <a href="/wiki/Unconjugated_bilirubin" class="mw-redirect" title="Unconjugated bilirubin">unconjugated bilirubin</a>, <a href="/wiki/Haptoglobin" title="Haptoglobin">haptoglobin</a>, <a href="/wiki/Lactate_dehydrogenase" title="Lactate dehydrogenase">lactate dehydrogenase</a> (LDH).</li> <li>Eosin-5-maleimide binding test</li> <li><a href="/wiki/Osmotic_fragility_test" class="mw-redirect" title="Osmotic fragility test">Osmotic fragility test</a><sup id="cite_ref-pmid18727072_11-0" class="reference"><a href="#cite_note-pmid18727072-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup></li> <li>Acidified glycerol lysis test</li> <li>A negative direct antiglobin test (<a href="/wiki/Coombs_test" title="Coombs test">Coombs test</a>)</li></ul> <div class="mw-heading mw-heading3"><h3 id="Common_laboratory_findings">Common laboratory findings</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=11" title="Edit section: Common laboratory findings"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The common findings of lab testing in setting of a patient with hereditary spherocytosis: </p> <ul><li><b>Coombs test</b>: Negative (rules-out <a href="/wiki/Autoimmune_hemolytic_anemia" title="Autoimmune hemolytic anemia">autoimmune hemolytic anemia</a>)</li> <li><b>Osmotic fragility test</b>: Positive (Spherocytes will rupture in liquid solutions less concentrated than the inside of the red blood cell. This is due to increased permeability of the spherocyte membrane to salt and water, which enters the concentrated inner environment of the RBC and leads to its rupture.<sup id="cite_ref-:0_12-0" class="reference"><a href="#cite_note-:0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> The osmotic fragility test is no longer considered the gold standard for diagnosing hereditary spherocytosis, as it misses ~25% of cases).</li> <li><b>Acidified glycerol lysis test</b>: Positive (A newer version of the osmotic fragility test that adds glycerol to a hypotonic solution. This produces lysis, a positive test, quicker that the traditional saline version).</li> <li><b>Supportive blood work:</b> <ul><li>Mean cell volume (MCV): Normocytic (normal range: 80–100 fL), or slightly lower. Spherocytes are slightly smaller than normal biconcave red blood cells.</li> <li>Mean corpuscular hemoglobin concentration (MCHC): Increased (normal range: 31–36% Hb/cell). This is secondary to less water being in the cell.</li> <li>Red blood cell distribution width (RDW): Increased (normal range: 11–15%). The spherocytes create variation in the size of the red blood cells on average, thus expanding the distribution.</li> <li>Red blood cell count (RBC): Sometimes increased early (normal range males: 4.3–5.9 million/mm<sup>3</sup>; normal range females: 3.5–5.5 million/mm<sup>3</sup>). The loss of surface area per cells cause the body to mass produce red blood cells. The spleen will filter spherocytes out and change this value.</li> <li>Reticulocytes: Increased (normal range: 0.5–1.5% of the RBC listed above). The body to mass produces red blood cells (reticulocytes being young erythrocytes) even as the spleen filters spherocytes out. This is known as <a href="/wiki/Reticulocytosis" title="Reticulocytosis">reticulocytosis</a>.</li> <li>Unconjugated bilirubin: Increased (normal range: 0.2–1.2 mg/dL). This is caused by heme released into the hepatosplenic circulation by macrophages that have phagocytosed erythrocytes. The unconjugated bilirubin is not soluble in water (blood), so it binds to albumin, and is processed in the liver.</li> <li>Haptoglobin (free): Decreased (normal range: 41–165 mg/dL). This is caused by hemoglobin binding to haptoglobin, thus making it no longer "free".</li> <li>Lactate dehydrogenase (LDH): Increased (normal range: 110–295 U/L in children). This is due to extravascular hemolysis.</li></ul></li> <li><b>Peripheral blood smear</b>: Directly shows spherocytes on microscope.</li> <li><b>Eosin-5-maleimide binding test</b>: Positive (reduced mean fluorescence), as the test will demonstrate a reduced ability of the eosin-5-maleimide dye to bind to erythrocyte plasma membrane proteins. The process relies upon <a href="/wiki/Flow_cytometry" title="Flow cytometry">flow cytometry</a>. <a href="/wiki/Gold_standard_(test)" title="Gold standard (test)">Gold standard</a> test that produces results at low cost within ~2 hours.</li></ul> <p>In chronic cases, patients who have taken <a href="/wiki/Iron" title="Iron">iron</a> supplementation, have heterozygous <a href="/wiki/Hemochromatosis" class="mw-redirect" title="Hemochromatosis">hemochromatosis</a>, or received numerous <a href="/wiki/Blood_transfusion" title="Blood transfusion">blood transfusions</a>, <a href="/wiki/Iron_overload" title="Iron overload">iron overload</a> may cause additional health issues. Measuring iron stores is sometimes considered part of the diagnostic approach to hereditary spherocytosis in older patients presenting with heart muscle damage of unknown etiology or liver disease without apparent cause. </p> <div class="mw-heading mw-heading3"><h3 id="Imaging">Imaging</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=12" title="Edit section: Imaging"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Ultrasound" title="Ultrasound">Ultrasound</a> is often used to evaluate the dimensions of the spleen, and also the gallbladder in preparation for functionally curative <a href="/wiki/Splenectomy" title="Splenectomy">splenectomy</a> with or without <a href="/wiki/Cholecystectomy" title="Cholecystectomy">cholecystectomy</a>. </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=13" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Although research is ongoing, currently there is no genetic-level cure for the myriad of mutations that cause the various presentations of hereditary spherocytosis.<sup id="cite_ref-HarrisonsInternal_6-3" class="reference"><a href="#cite_note-HarrisonsInternal-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Common current management focuses on interventions prevent the body from inappropriately destroying the functional spherocytes produced by erythrocyte progenitor cells within the bone marrow. </p><p>Typical treatment options include: </p> <ul><li><b><a href="/wiki/Splenectomy" title="Splenectomy">Splenectomy</a> (operative)</b>: This is the operative removal of the entire spleen by a surgeon, thus stopping the extravascular hemolysis, but also removing the immune functions the spleen naturally provide to the body.</li> <li><b>Partial splenectomy (operative)</b>: This is when only a section of the spleen is removed, instead of the entire organ. The goal is to lower the extravascular hemolysis to a level compatible with homeostasis of the patient, while preserving the immune function of the spleen's presence.<sup id="cite_ref-Dx&TxGuidelines_2-1" class="reference"><a href="#cite_note-Dx&TxGuidelines-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Research on outcomes is currently ongoing,<sup id="cite_ref-Dx&TxGuidelines_2-2" class="reference"><a href="#cite_note-Dx&TxGuidelines-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> and is routine at children's hospitals within the United States of America.<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup></li> <li><b>Splenic ablation (<a href="/wiki/Interventional_radiology" title="Interventional radiology">interventional radiology</a>)</b>: This option is non-operative, and is when an interventional radiologist (instead of a surgeon) uses radiologic techniques to coil or cauterize vasculature within the splenic circulation. There are various points in the circulatory pathway where the treatment can be applied to produces varying amounts of retained viability of the spleen, thus giving the option to attempt to preserve splenic immune function.</li></ul> <p>All operative and interventional treatments require the immunization of HS patients against the <a href="/wiki/Influenza" title="Influenza">influenza</a> virus, SARS-CoV-2, and encapsulated bacteria such as <i><a href="/wiki/Streptococcus_pneumoniae" title="Streptococcus pneumoniae">Streptococcus pneumoniae</a></i> and <a href="/wiki/Meningococcus" class="mw-redirect" title="Meningococcus">meningococcus</a>. Antibiotics are no longer recommended for maintenance use, even in post-splenectomy HS patients. Since the spleen is important for protecting against encapsulated organisms, sepsis caused by encapsulated organisms is a possible complication of splenectomy.<sup id="cite_ref-Dx&TxGuidelines_2-3" class="reference"><a href="#cite_note-Dx&TxGuidelines-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>Additional elective treatments offered: </p> <ul><li><a href="/wiki/Cholecystectomy" title="Cholecystectomy">Surgical removal of the gallbladder</a>.<sup id="cite_ref-HarrisonsInternal_6-4" class="reference"><a href="#cite_note-HarrisonsInternal-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li></ul> <p>Experimental treatment: </p> <ul><li><b><a href="/wiki/Hematopoietic_stem_cell_transplantation" title="Hematopoietic stem cell transplantation">Bone marrow transplant</a> (heme-oncology intervention)</b>: The replacement of the bone marrow with bone marrow from an individual without spherocytosis. The transplanted progenitor cells do not have the genetic mutations found in individuals with hereditary spherocytosis, and therefore do not produce spherocytes. This results in an individual with biconcave-disc-shaped erythrocytes. This treatment is not standard of care, and is not offered as it has only been documented incidentally during treatment for other diseases, such as <a href="/wiki/Myelodysplastic_syndrome" title="Myelodysplastic syndrome">myelodysplastic syndrome</a>.</li></ul> <p>Symptomatic treatments: </p> <ul><li><a href="/wiki/Folate" title="Folate">Folic acid</a> supplementation.</li></ul> <div class="mw-heading mw-heading2"><h2 id="Complications">Complications</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=14" title="Edit section: Complications"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Common_complications">Common complications</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=15" title="Edit section: Common complications"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>Hemolytic crisis, with more pronounced jaundice due to accelerated hemolysis (may be precipitated by infection).</li> <li>Aplastic crisis with dramatic fall in hemoglobin level and (reticulocyte count)-decompensation, usually due to maturation arrest and often associated with <a href="/wiki/Megaloblastic_anemia" title="Megaloblastic anemia">megaloblastic</a> changes; may be precipitated by infection, such as influenza, notably with <a href="/wiki/Parvovirus_B19" title="Parvovirus B19">parvovirus B19</a>.</li> <li>Folate deficiency caused by increased bone marrow requirement.</li> <li>Pigmented gallstones occur in approximately half of untreated patients. Increased hemolysis of red blood cells leads to increased bilirubin levels, because bilirubin is a breakdown product of heme. The high levels of bilirubin must be excreted into the bile by the liver, which may cause the formation of a pigmented gallstone, which is composed of calcium bilirubinate. Since these stones contain high levels of calcium carbonates and phosphate, they are radiopaque and are visible on x-ray.</li> <li><a href="/wiki/Hyperglycemia" title="Hyperglycemia">Hyperglycemia</a> with concomitant low hemoglobin A1C levels. <ul><li><a href="/wiki/Hemoglobin_A1c" class="mw-redirect" title="Hemoglobin A1c">Hemoglobin A1C</a> (glycated hemoglobin) is a test for determining the average blood glucose levels over an extended period of time, and is often used to evaluate glucose control in diabetics. The hemoglobin A1C levels are abnormally low because the life span of the red blood cells is decreased - providing less time for the non-enzymatic <a href="/wiki/Glycosylation" title="Glycosylation">glycosylation</a> of hemoglobin. Thus, even with high overall blood sugar, the A1C will be lower than expected.</li></ul></li> <li>Iron overload.</li> <li>Leg ulcer.</li> <li>Deep vein thrombosis (DVT).</li> <li>Cardiovascular disease.</li></ul> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=16" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Modern ongoing research interests: </p> <ul><li>Experimental <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> exists to treat hereditary spherocytosis in lab mice; however, this treatment has not yet been tried on humans due to all of the risks involved in human gene therapy.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup></li> <li>Bone marrow transplant.</li> <li>Paradoxical endurance-based athleticism associated with hereditary spherocytosis.</li> <li>Evolution of spherocytic erythrocyte adaptation in those of Northern European and Japanese descent.</li> <li>Increased ability to defend against viral infections in hereditary spherocytosis patients.</li></ul> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=17" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Spherocytosis" title="Spherocytosis">Spherocytosis</a></li> <li><a href="/wiki/Anemia" title="Anemia">Anemia</a></li> <li><a href="/wiki/Hematology" title="Hematology">Hematology</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hereditary_spherocytosis&action=edit&section=18" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-isbn0-7216-0187-1-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-isbn0-7216-0187-1_1-0">^</a></b></span> <span class="reference-text"><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 id="CITEREFCotran,_Ramzi_S.Kumar,_VinayFausto,_NelsonNelso_Fausto2005" class="citation book cs1">Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). <i>Robbins and Cotran pathologic basis of disease</i>. 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title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Pediatric+Surgery&rft.atitle=Partial+splenectomy+for+hereditary+spherocytosis%3A+A+multi-institutional+review&rft.volume=46&rft.issue=1&rft.pages=178-183&rft.date=2011&rft_id=info%3Adoi%2F10.1016%2Fj.jpedsurg.2010.09.090&rft_id=info%3Apmid%2F21238662&rft.aulast=Buesing&rft.aufirst=K.+L.&rft.au=Tracy%2C+E.+T.&rft.au=Kiernan%2C+C.&rft.au=Pastor%2C+A.+C.&rft.au=Cassidy%2C+L.+D.&rft.au=Scott%2C+J.+P.&rft.au=Ware%2C+R.+E.&rft.au=Davidoff%2C+A.+M.&rft.au=Rescorla%2C+F.+J.&rft.au=Langer%2C+J.+C.&rft.au=Rice%2C+H.+E.&rft.au=Oldham%2C+K.+T.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AHereditary+spherocytosis" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a 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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/Q541244" class="extiw" title="d:Q541244">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><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></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D58.0">D58.0</a></li><li><b><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></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=282.0">282.0</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/182900">182900</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D013103">D013103</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><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/000530.htm">000530</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/2147-overview">med/2147</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822">822</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="https://web.archive.org/web/20050925004034/http://my.webmd.com/hw/anemia/nord81.asp">A short article from WebMD</a></li> <li><a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/imagepages/1220.htm">A picture of spherocytes from Medline</a></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 rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar 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href="/wiki/Template:Diseases_of_RBCs" title="Template:Diseases of RBCs"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Diseases_of_RBCs" title="Template talk:Diseases of RBCs"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Diseases_of_RBCs" title="Special:EditPage/Template:Diseases of RBCs"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_red_blood_cells" style="font-size:114%;margin:0 4em"><a href="/wiki/Hematologic_disease" title="Hematologic disease">Diseases</a> of <a href="/wiki/Red_blood_cell" title="Red blood 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><br />(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><i><a href="/wiki/Enzymopathy" class="mw-redirect" title="Enzymopathy">enzymopathy</a>:</i> <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><i><a href="/wiki/Glycolysis" title="Glycolysis">glycolysis</a></i> <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><i><a href="/wiki/Hemoglobinopathy" title="Hemoglobinopathy">hemoglobinopathy</a>:</i> <a href="/wiki/Thalassemia" title="Thalassemia">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><i><a href="/wiki/Red_blood_cell#Membranes_and_surface_proteins" title="Red blood cell">membrane</a>:</i> <a class="mw-selflink selflink">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><i><a href="/wiki/Red_blood_cell#Membranes_and_surface_proteins" title="Red blood cell">membrane</a></i> <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><br />(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><i><a href="/wiki/Mean_corpuscular_volume" title="Mean corpuscular volume">Mean corpuscular volume</a></i> <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><i><a href="/wiki/Mean_corpuscular_hemoglobin_concentration" title="Mean corpuscular hemoglobin concentration">Mean corpuscular hemoglobin concentration</a></i> <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 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="Cytoskeletal_defects" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cytoskeletal_defects" title="Template:Cytoskeletal defects"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cytoskeletal_defects" title="Template talk:Cytoskeletal defects"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cytoskeletal_defects" title="Special:EditPage/Template:Cytoskeletal defects"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cytoskeletal_defects" style="font-size:114%;margin:0 4em"><a href="/wiki/Cytoskeleton" title="Cytoskeleton">Cytoskeletal</a> defects</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Microfilament" title="Microfilament">Microfilaments</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/Myofilament" title="Myofilament">Myofilament</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/Actin" title="Actin">Actin</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/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 11</a></li> <li><a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1AA</a></li> <li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFNA20</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 3</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myosin" title="Myosin">Myosin</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/Elejalde_syndrome" title="Elejalde syndrome">Elejalde syndrome</a></li> <li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 1, 8, 10</a></li> <li><a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome 1B</a></li> <li><a href="/wiki/Freeman%E2%80%93Sheldon_syndrome" title="Freeman–Sheldon syndrome">Freeman–Sheldon syndrome</a></li> <li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFN A3, 4, 11, 17, 22; B2, 30, 37, 48</a></li> <li><a href="/wiki/May%E2%80%93Hegglin_anomaly" title="May–Hegglin anomaly">May–Hegglin anomaly</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Troponin" title="Troponin">Troponin</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/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 7, 2</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 4, 5</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tropomyosin" title="Tropomyosin">Tropomyosin</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/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 3</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Titin" title="Titin">Titin</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/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 9</a></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-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fibrillin" title="Fibrillin">Fibrillin</a> <ul><li><a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a></li> <li><a href="/wiki/Weill%E2%80%93Marchesani_syndrome" title="Weill–Marchesani syndrome">Weill–Marchesani syndrome</a></li></ul></li> <li><a href="/wiki/Filamin" title="Filamin">Filamin</a> <ul><li><a href="/wiki/FG_syndrome" title="FG syndrome">FG syndrome 2</a></li> <li><a href="/wiki/Boomerang_dysplasia" title="Boomerang dysplasia">Boomerang dysplasia</a></li> <li><a href="/wiki/Larsen_syndrome" title="Larsen syndrome">Larsen syndrome</a></li> <li><a href="/wiki/Terminal_osseous_dysplasia_with_pigmentary_defects" title="Terminal osseous dysplasia with pigmentary defects">Terminal osseous dysplasia with pigmentary defects</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Intermediate_filament" title="Intermediate filament">IF</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%">1/2</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/Keratin_disease" title="Keratin disease">Keratinopathy</a> (<a href="/wiki/Keratosis" title="Keratosis">keratosis</a>, <a href="/wiki/Keratoderma" title="Keratoderma">keratoderma</a>, <a href="/wiki/Hyperkeratosis" title="Hyperkeratosis">hyperkeratosis</a>): <a href="/wiki/Keratin_1" title="Keratin 1">KRT1</a> <ul><li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 3</a></li> <li><a href="/wiki/Epidermolytic_hyperkeratosis" title="Epidermolytic hyperkeratosis">Epidermolytic hyperkeratosis</a></li> <li><a href="/wiki/Ichthyosis_hystrix" title="Ichthyosis hystrix">IHCM</a></li></ul></li> <li><a href="/wiki/Keratin_2A" title="Keratin 2A">KRT2E</a> (<a href="/wiki/Ichthyosis_bullosa_of_Siemens" title="Ichthyosis bullosa of Siemens">Ichthyosis bullosa of Siemens</a>)</li> <li><a href="/wiki/Keratin_3" title="Keratin 3">KRT3</a> (<a href="/wiki/Meesmann_juvenile_epithelial_corneal_dystrophy" class="mw-redirect" title="Meesmann juvenile epithelial corneal dystrophy">Meesmann juvenile epithelial corneal dystrophy</a>)</li> <li><a href="/wiki/Keratin_4" title="Keratin 4">KRT4</a> (<a href="/wiki/White_sponge_nevus" title="White sponge nevus">White sponge nevus</a>)</li> <li><a href="/wiki/Keratin_5" title="Keratin 5">KRT5</a> (<a href="/wiki/Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a>)</li> <li><a href="/wiki/Keratin_8" title="Keratin 8">KRT8</a> (<a href="/wiki/Familial_cirrhosis" title="Familial cirrhosis">Familial cirrhosis</a>)</li> <li><a href="/wiki/Keratin_10" title="Keratin 10">KRT10</a> (<a href="/wiki/Epidermolytic_hyperkeratosis" title="Epidermolytic hyperkeratosis">Epidermolytic hyperkeratosis</a>)</li> <li><a href="/wiki/Keratin_12" title="Keratin 12">KRT12</a> (<a href="/wiki/Meesmann_juvenile_epithelial_corneal_dystrophy" class="mw-redirect" title="Meesmann juvenile epithelial corneal dystrophy">Meesmann juvenile epithelial corneal dystrophy</a>)</li> <li><a href="/wiki/Keratin_13" title="Keratin 13">KRT13</a> (<a href="/wiki/White_sponge_nevus" title="White sponge nevus">White sponge nevus</a>)</li> <li><a href="/wiki/Keratin_14" title="Keratin 14">KRT14</a> (<a href="/wiki/Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a>)</li> <li><a href="/wiki/Keratin_17" title="Keratin 17">KRT17</a> (<a href="/wiki/Steatocystoma_multiplex" title="Steatocystoma multiplex">Steatocystoma multiplex</a>)</li> <li><a href="/wiki/Keratin_18" title="Keratin 18">KRT18</a> (<a href="/wiki/Familial_cirrhosis" title="Familial cirrhosis">Familial cirrhosis</a>)</li> <li><a href="/wiki/KRT81" title="KRT81">KRT81</a>/<a href="/wiki/KRT83" title="KRT83">KRT83</a>/<a href="/wiki/KRT86" title="KRT86">KRT86</a> (<a href="/wiki/Monilethrix" title="Monilethrix">Monilethrix</a>)</li> <li><a href="/wiki/Naegeli%E2%80%93Franceschetti%E2%80%93Jadassohn_syndrome" title="Naegeli–Franceschetti–Jadassohn syndrome">Naegeli–Franceschetti–Jadassohn syndrome</a></li> <li><a href="/wiki/Reticular_pigmented_anomaly_of_the_flexures" title="Reticular pigmented anomaly of the flexures">Reticular pigmented anomaly of the flexures</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3</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/Desmin" title="Desmin">Desmin</a>: <a href="/wiki/Desmin-related_myofibrillar_myopathy" title="Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></li> <li><a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1I</a></li></ul> <ul><li><a href="/wiki/Glial_fibrillary_acidic_protein" title="Glial fibrillary acidic protein">GFAP</a>: <a href="/wiki/Alexander_disease" title="Alexander disease">Alexander disease</a></li></ul> <ul><li><a href="/wiki/Peripherin" title="Peripherin">Peripherin</a>: <a href="/wiki/Amyotrophic_lateral_sclerosis" class="mw-redirect" title="Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4</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/Neurofilament" title="Neurofilament">Neurofilament</a>: <a href="/wiki/Parkinson%27s_disease" title="Parkinson's disease">Parkinson's disease</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 1F, 2E</a></li> <li><a href="/wiki/Amyotrophic_lateral_sclerosis" class="mw-redirect" title="Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">5</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/Laminopathy" title="Laminopathy">Laminopathy</a>: LMNA <ul><li><a href="/wiki/Mandibuloacral_dysplasia" title="Mandibuloacral dysplasia">Mandibuloacral dysplasia</a></li> <li><a href="/wiki/Dunnigan_familial_partial_lipodystrophy" title="Dunnigan familial partial lipodystrophy">Dunnigan</a> <a href="/wiki/Familial_partial_lipodystrophy" title="Familial partial lipodystrophy">Familial partial lipodystrophy</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy_2" class="mw-redirect" title="Emery–Dreifuss muscular dystrophy 2">Emery–Dreifuss muscular dystrophy 2</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1B</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease_2B1" class="mw-redirect" title="Charcot–Marie–Tooth disease 2B1">Charcot–Marie–Tooth disease 2B1</a></li></ul></li> <li>LMNB <ul><li><a href="/wiki/Barraquer%E2%80%93Simons_syndrome" title="Barraquer–Simons syndrome">Barraquer–Simons syndrome</a></li></ul></li> <li>LEMD3 <ul><li><a href="/wiki/Buschke%E2%80%93Ollendorff_syndrome" title="Buschke–Ollendorff syndrome">Buschke–Ollendorff syndrome</a></li> <li><a href="/wiki/Osteopoikilosis" title="Osteopoikilosis">Osteopoikilosis</a></li></ul></li> <li>LBR <ul><li><a href="/wiki/Pelger%E2%80%93Huet_anomaly" class="mw-redirect" title="Pelger–Huet anomaly">Pelger–Huet anomaly</a></li> <li><a href="/wiki/Hydrops-ectopic_calcification-moth-eaten_skeletal_dysplasia" title="Hydrops-ectopic calcification-moth-eaten skeletal dysplasia">Hydrops-ectopic calcification-moth-eaten skeletal dysplasia</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Microtubule" title="Microtubule">Microtubules</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/Kinesin" title="Kinesin">Kinesin</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/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 2A</a></li> <li><a href="/wiki/Hereditary_spastic_paraplegia" title="Hereditary spastic paraplegia">Hereditary spastic paraplegia 10</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dynein" title="Dynein">Dynein</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/Primary_ciliary_dyskinesia" title="Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></li> <li><a href="/wiki/Short_rib-polydactyly_syndrome_3" class="mw-redirect" title="Short rib-polydactyly syndrome 3">Short rib-polydactyly syndrome 3</a></li> <li><a href="/wiki/Asphyxiating_thoracic_dysplasia_3" class="mw-redirect" title="Asphyxiating thoracic dysplasia 3">Asphyxiating thoracic dysplasia 3</a></li></ul> </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/Tauopathy" title="Tauopathy">Tauopathy</a></li> <li><a href="/wiki/Cavernous_venous_malformation" class="mw-redirect" title="Cavernous venous malformation">Cavernous venous malformation</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/Membrane_protein" title="Membrane protein">Membrane</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/Spectrin" title="Spectrin">Spectrin</a>: <a href="/wiki/Spinocerebellar_ataxia_5" class="mw-redirect" title="Spinocerebellar ataxia 5">Spinocerebellar ataxia 5</a></li> <li><a href="/wiki/Hereditary_spherocytosis_2,_3" class="mw-redirect" title="Hereditary spherocytosis 2, 3">Hereditary spherocytosis 2, 3</a></li> <li><a href="/wiki/Hereditary_elliptocytosis_2,_3" class="mw-redirect" title="Hereditary elliptocytosis 2, 3">Hereditary elliptocytosis 2, 3</a></li></ul> <p><a href="/wiki/Ankyrin" title="Ankyrin">Ankyrin</a>: <a href="/wiki/Long_QT_syndrome_4" class="mw-redirect" title="Long QT syndrome 4">Long QT syndrome 4</a> </p> <ul><li><a href="/wiki/Hereditary_spherocytosis_1" class="mw-redirect" title="Hereditary spherocytosis 1">Hereditary spherocytosis 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Catenin" title="Catenin">Catenin</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><i><a href="/wiki/Adenomatous_polyposis_coli" title="Adenomatous polyposis coli">APC</a></i> <ul><li><a href="/wiki/Gardner%27s_syndrome" title="Gardner's syndrome">Gardner's syndrome</a></li> <li><a href="/wiki/Familial_adenomatous_polyposis" title="Familial adenomatous polyposis">Familial adenomatous polyposis</a></li></ul></li> <li><i><a href="/wiki/Plakoglobin" title="Plakoglobin">plakoglobin</a></i> (<a href="/wiki/Naxos_syndrome" title="Naxos syndrome">Naxos syndrome</a>)</li> <li><i><a href="/wiki/Gigaxonin" title="Gigaxonin">GAN</a></i> (<a href="/wiki/Giant_axonal_neuropathy" title="Giant axonal neuropathy">Giant axonal neuropathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</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/Desmoplakin" title="Desmoplakin">desmoplakin</a>: <a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 2</a></li> <li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Carvajal syndrome</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 8</a></li></ul> <ul><li><a href="/wiki/Plectin" title="Plectin">plectin</a>: <a href="/wiki/Epidermolysis_bullosa_simplex_with_muscular_dystrophy" class="mw-redirect" title="Epidermolysis bullosa simplex with muscular dystrophy">Epidermolysis bullosa simplex with muscular dystrophy</a></li> <li><a href="/wiki/Epidermolysis_bullosa_simplex_of_Ogna" class="mw-redirect" title="Epidermolysis bullosa simplex of Ogna">Epidermolysis bullosa simplex of Ogna</a></li></ul> <ul><li><a href="/wiki/Plakophilin" title="Plakophilin">plakophilin</a>: <a href="/wiki/Skin_fragility_syndrome" title="Skin fragility syndrome">Skin fragility syndrome</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 9</a></li></ul> <ul><li><a href="/wiki/Centrosome" title="Centrosome">centrosome</a>: <i><a href="/wiki/PCNT" title="PCNT">PCNT</a></i> (<a href="/wiki/Microcephalic_osteodysplastic_primordial_dwarfism_type_II" title="Microcephalic osteodysplastic primordial dwarfism type II">Microcephalic osteodysplastic primordial dwarfism type II</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>Related topics: <a href="/wiki/Template:Cytoskeletal_proteins" title="Template:Cytoskeletal proteins">Cytoskeletal proteins</a></i></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div 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