Sickle Cell Disease - What Is Sickle Cell Disease?

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Misshapen red blood cells can block blood flow causing lifelong health problems. 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block-field-blocknodehealth-topicstitle"> <h1 class="field field--name-title field--type-string field--label-hidden responsive-container responsive-container-constrained field__item"><span class="ht-kicker">Sickle Cell Disease </span>What Is Sickle Cell Disease?<hr> </h1> </div> <div class="block block-addtoany block-addtoany-block"> <div class="responsive-container responsive-container-constrained"> <span class="a2a_kit a2a_kit_size_24 addtoany_list" data-a2a-url="https://www.nhlbi.nih.gov/health/sickle-cell-disease" data-a2a-title="What Is Sickle Cell Disease?"> <a class="a2a_dd addtoany_share" href="https://www.addtoany.com/share#url=https%3A%2F%2Fwww.nhlbi.nih.gov%2Fhealth%2Fsickle-cell-disease&title=What%20Is%20Sickle%20Cell%20Disease%3F"> <img src="/themes/custom/nhlbi/images/share-alt-icon.svg" alt="Share"> </a> <a class="a2a_button_email"></a> <a class="a2a_button_print"></a> </span> </div> </div> <div class="language-switcher-language-url block block-language block-language-blocklanguage-content" role="navigation"> <div class="responsive-container responsive-container-constrained"><h2 class="visually-hidden" aria-label="Switch to Espanol">Language switcher</h2><ul class="links"><li hreflang="en" data-drupal-link-system-path="node/92844" class="is-active" aria-current="page"><a href="/health/sickle-cell-disease" class="language-link is-active" hreflang="en" data-drupal-link-system-path="node/92844" aria-current="page">English</a></li><li hreflang="es" data-drupal-link-system-path="node/92844"><a href="/es/salud/enfermedad-de-celulas-falciformes" class="language-link" hreflang="es" data-drupal-link-system-path="node/92844">Español</a></li></ul> </div> </div> <div class="block block-layout-builder block-field-blocknodehealth-topicsfield-component-page-links"> </div> <div class="block block-layout-builder block-field-blocknodehealth-topicsfield-component-page-alert"> <div class="field field--name-field-component-page-alert field--type-text-long field--label-hidden responsive-container responsive-container-constrained field__item"><div class="component-page-alert-row"><span><i class="fas fa-exclamation-triangle"></i></span> <p><a href="https://www.pfizer.com/news/press-release/press-release-detail/pfizer-voluntarily-withdraws-all-lots-sickle-cell-disease" rel="noreferrer">In September 2024, Pfizer withdrew voxelotor</a> (also called Oxbryta) from the market. The medicine was used to prevent sickling in red blood cells. Pfizer said the benefits of using voxelotor do not outweigh the risks in the approved sickle cell population.</p> </div></div> </div> <div class="block block-layout-builder block-field-blocknodehealth-topicsfield-component-sections"> <div class="field field--name-field-component-sections field--type-entity-reference-revisions field--label-hidden"> <div class='field__items'> <div class="paragraph component component-section component-theme-white component-section-theme-white component-section-node-theme- paragraph--type--component-section paragraph--view-mode--default"> <div class="responsive-container responsive-container-constrained"> <div class="field field--name-field-component-section-content field--type-text-long field--label-hidden clearfix field__item"><p><img data-entity-uuid="07f9e242-3bc2-48fe-8629-7146a94358de" data-entity-type="file" alt="smiling kids" width="623" height="415" class="align-right b-lazy" data-src="/sites/default/files/inline-images/20-1066%20GettyImages-1178808456_900x600_1.jpg" src="/modules/custom/nhlbi_blazy/images/clear.png"></p><p>Sickle cell disease — also called sickle cell <a href="https://www.nhlbi.nih.gov/health/anemia" rel="noreferrer"><span>anemia</span></a><span class="MsoHyperlink"> </span>— is a group of <span data-entity-type="node" data-entity-uuid="e4c7fd67-5ed8-492e-ad85-62f82298d49b" data-embed-button="node" data-entity-embed-display="entity_reference:entity_reference_entity_view" data-entity-embed-display-settings="{"view_mode":"default","data-glossary-capitalization":"none","data-glossary-plural":"none","data-glossary-style":"0|0|0"}" data-langcode="en" class="entity-embed-glossary_term embedded-entity"> <a class="glossary-term" href="#" title="Definition of inherited " alt="Definition of inherited" data-term="inherited" data-pronunciation="in-HAYR-ih-ted" data-definition="The passing of genetic information from a parent to a child through genes." role="link"> inherited </a> </span> disorders that affect  <span data-entity-type="node" data-entity-uuid="b7eca5a0-efb6-40fd-adb2-aa0b2711c89e" data-embed-button="node" data-entity-embed-display="entity_reference:entity_reference_entity_view" data-entity-embed-display-settings="{"view_mode":"default","data-glossary-capitalization":"none","data-glossary-plural":"none","data-glossary-style":"0|0|0"}" data-langcode="en" class="entity-embed-glossary_term embedded-entity"> <a class="glossary-term" href="#" title="Definition of hemoglobin " alt="Definition of hemoglobin" data-term="hemoglobin" data-pronunciation="HEE-moh-GLOH-bin" data-definition="A protein in red blood cells that carries oxygen throughout the body." role="link"> hemoglobin </a> </span> , the major protein that carries oxygen in red blood cells. Normally, red blood cells are disc-shaped and flexible so they can move easily through the blood vessels. In sickle cell disease, red blood cells are misshaped, typically crescent- or “sickle”-shaped due to a gene <span data-entity-type="node" data-entity-uuid="8e4c3a7e-80e0-49e0-a9a9-3cb203559601" data-embed-button="node" data-entity-embed-display="entity_reference:entity_reference_entity_view" data-entity-embed-display-settings="{"view_mode":"default","data-glossary-capitalization":"none","data-glossary-plural":"none","data-glossary-style":"0|0|0"}" data-langcode="en" class="entity-embed-glossary_term embedded-entity"> <a class="glossary-term" href="#" title="Definition of mutation " alt="Definition of mutation" data-term="mutation" data-pronunciation="myoo-TAY-shun" data-definition="Any change in a nucleic acid sequence, such as DNA or RNA." role="link"> mutation </a> </span> that affects the hemoglobin molecule. When red blood cells sickle, they do not bend or move easily and can block blood flow to the rest of the body. </p><p><a href="https://nhlbi.nih.gov/health/sickle-cell-disease/symptoms#emergency" rel="noreferrer">Serious problems</a> may come from having sickle cell disease, including sudden onset of strong episodes of pain, called pain crises, that occur because of blocked blood flow and often require medical attention Other terms used to describe these pain episodes include “sickle cell crisis” and “vaso-occlusive crisis.” People who have sickle cell disease may also experience other <a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease/health-effects" rel="noreferrer">serious health complications</a>, such as chronic pain, <a href="https://www.nhlbi.nih.gov/health/stroke" rel="noreferrer"><span>stroke</span></a>, lung problems, eye problems, infections, and kidney disease. <span> </span></p><p><span>Sickle cell disease is a lifelong illness that may be managed through preventive screening and treatment strategies. </span><a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease/treatment" rel="noreferrer"><span>Treatment</span></a><span> reduces or helps manage </span><a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease/symptoms" rel="noreferrer"><span>symptoms</span></a><span> and increase longevity. With the right care, many people who have sickle cell disease </span><a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease/living-with" rel="noreferrer"><span>live fulfilling lives</span></a><span> and safely participate in most activities. </span></p><p> <div data-entity-type="node" data-entity-uuid="68f6095e-7338-4ffd-925d-6149cf226958" data-embed-button="node" data-entity-embed-display="entity_reference:entity_reference_entity_view" data-entity-embed-display-settings="{"view_mode":"default","data-callout-width":"half"}" class="align-right callout-embed-width-half entity-embed-callout embedded-entity" data-langcode="en"> <article class="node node--type-callout node--promoted node--view-mode-callout-descriptive red"> <div class="node__content"> <div class="component-callout-container component-callout-container-descriptive component-callout-container-descriptive-red component-callout-container-descriptive-white callout-descriptive-no-image"> <div class="callout-descriptive"> <div class="callout-descriptive-text"> <div class="field field--name-field-callout-description field--type-text-long field--label-hidden field__item"> <h3>The NHLBI Drives Progress Toward Cures</h3><p>In December 2023, the U.S. Food and Drug Administration approved two new <a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease/treatment" rel="noreferrer">gene therapies</a> that are transformative therapies for sickle cell disease: </p><ul><li>One treatment <a href="https://medlineplus.gov/druginfo/meds/a624018.html" rel="noreferrer">adds a modified gene</a> into the body<span>.</span></li><li>One treatment <a href="https://medlineplus.gov/druginfo/meds/a624020.html" rel="noreferrer">makes a change to a gene</a> that is already in the body.</li></ul> </div> </div> </div> </div> </div> </article> </div> </p><p>Sickle cell disease affects more than 100,000 people in the United States and 8 million<span> </span>people worldwide. In the United States, 9 of 10 people who have sickle cell disease are of African ancestry or identify as Black:</p><ul><li><span>About 1 in 13 Black babies are born with </span><a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease/sickle-cell-trait" rel="noreferrer"><span>sickle cell trait</span></a><span class="MsoHyperlink">,</span><span> </span>meaning that they inherited a sickle cell gene from one parent. </li><li>About 1 in every 365 Black babies are born with sickle cell disease, meaning they inherited a sickle cell gene from each parent.</li></ul><p>The NHLBI leads and supports research and clinical trials to find more transformative therapies and potential cures for sickle cell disease.</p><p> <div data-entity-type="node" data-entity-uuid="510c6455-7c12-40cd-98d4-8412c513ea71" data-embed-button="node" data-entity-embed-display="entity_reference:entity_reference_entity_view" data-entity-embed-display-settings="{"view_mode":"callout_descriptive","data-callout-width":"full"}" class="align-left callout-embed-width-full entity-embed-callout embedded-entity" data-langcode="en"> <article class="node node--type-callout node--promoted node--view-mode-callout-descriptive red"> <div class="node__content"> <div class="component-callout-container component-callout-container-descriptive component-callout-container-descriptive-red component-callout-container-descriptive-white callout-descriptive-with-image"> <div class="callout-descriptive"> <div class="callout-descriptive-image"> <div class="field field--name-field-callout-descriptive-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/modules/custom/nhlbi_blazy/images/clear.png" width="720" height="480" alt="sickle cell" data-src="/sites/default/files/styles/crop_callout/public/2024-09/nhlbi-sickle-cell-callout-01_0.jpg?itok=uGC9i-Gs" class="b-lazy image-style-crop-callout"> </div> </div> <div class="callout-descriptive-text"> <div class="field field--name-field-kicker field--type-string field--label-hidden field__item">BOOKLET</div> <div class="field field--name-field-callout-description field--type-text-long field--label-hidden field__item"> <h3><span>Sickle Cell Disease: Milestones in Research and Clinical Progress Booklet</span></h3><p><span>Learn about the history of sickle cell disease in the United States, from its discovery in 1910 to the NHLBI legacy of research that has advanced the understanding of sickle cell disease, improved clinical progress, and paved the way for widely available cures.</span></p> </div> <div class="nhlbi_text_link_button nhlbi_text_link_button_red field--name-field-callout-link"> <a href="/resources/sickle-cell-disease-milestones-research-and-clinical-progress-booklet" aria-label="Download the booklet">Download the booklet<span class="fa-left-icon fa-li fa-li-red"><i class="fas fa-chevron-circle-right"></i></span></a> </div> 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