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class="menu-topic-bar">Research Topics</div> <div class="node__content"> <div class="layout layout--onecol"> <div class="layout__region layout__region--content"> <div class="block block-nhlbi-utils block-nhlbi-global-breadcrumb"> <div class="responsive-container responsive-container-constrained breadcrumbs-container"><div class="breadcrumbs"><ul> <li class='breadcrumb-home'><a href='/'>Home</a></li><li class='breacrumb-break'><i class="fas fa-angle-right"></i></li><li class='breadcrumb-parent'><a href='/node/129758'><span class='back-to'> < Back To </span>Research Topics</a></li><li class='breacrumb-break'><i class="fas fa-angle-right"></i></li><li class='breadcrumb-current'>Sickle Cell Disease Research </li></ul></div></div> </div> <div class="block block-layout-builder block-extra-field-blocknoderesearch-topicscontent-moderation-control"> </div> </div> </div> <div class="layout layout--onecol"> <div class="layout__region layout__region--content"> <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/research/sickle-cell-disease" data-a2a-title="Sickle Cell Disease Research "> <a class="a2a_dd addtoany_share" href="https://www.addtoany.com/share#url=https%3A%2F%2Fwww.nhlbi.nih.gov%2Fresearch%2Fsickle-cell-disease&title=Sickle%20Cell%20Disease%20Research%20"> <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="block block-layout-builder block-field-blocknoderesearch-topicstitle"> <h1 class="field field--name-title field--type-string field--label-hidden responsive-container responsive-container-constrained field__item">Sickle Cell Disease Research </h1> </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/93453" class="is-active" aria-current="page"><a href="/research/sickle-cell-disease" class="language-link is-active" hreflang="en" data-drupal-link-system-path="node/93453" aria-current="page">English</a></li><li hreflang="es" data-drupal-link-system-path="node/93453"><a href="/es/investigaciones/enfermedad-de-celulas-falciformes" class="language-link" hreflang="es" data-drupal-link-system-path="node/93453">Español</a></li></ul> </div> </div> <div class="block block-layout-builder block-field-blocknoderesearch-topicsfield-component-page-links"> <div class="responsive-container responsive-container-constrained"> <div class="component-lab-banner-links component-page-links component-page-links-theme-red" id="component-page-links-holder"><span class="component-page-links-kicker">IN THIS ARTICLE</span> <ul id="component-page-links-ul"> </ul> <div id="component-page-links-more-button" class="component-page-links-more-button"><a class="component-page-links-more-button-a" href="javascript:void(0);">View More</a></div> <div id="component-page-links-less-button" class="component-page-links-less-button hidden"><a class="component-page-links-less-button-a" href="javascript:void(0);">View Less</a></div> </div> </div> </div> <div class="block block-layout-builder block-field-blocknoderesearch-topicsfield-health-topic-summary"> <div class="responsive-container responsive-container-constrained"> <div class="field field--name-field-health-topic-summary field--type-text-long field--label-hidden field__item"><p><span class="normaltextrun">The National Institutes of Health (NIH) has supported research on sickle cell disease — also called sickle cell anemia — since before the NHLBI’s founding in 1948. With each passing decade, the NHLBI has kept a focus on advancing the understanding of sickle cell disease and improving clinical care for people who have it. The Institute leads and supports research and programs on sickle cell disease in the United States and around the world. </span><span>For example, it has strongly supported the development of </span><a href="https://www.nhlbi.nih.gov/health/genetic-therapies" rel="noreferrer"><span>gene therapies</span></a><span> to treat the disease. Two gene-based treatments were approved by the U.S. Food and Drug Administration (FDA) in December 2023.</span></p><p><span class="normaltextrun">We are committed to building upon this legacy of research excellence to develop even more new treatments and personalize care for the approximately 100,000 Americans and more than </span><span>8 million people worldwide</span><span class="normaltextrun"> living with sickle cell disease</span><span>. In the United States, 9 of 10 people who have been diagnosed with this painful, life-shortening disease are of African ancestry or identify as Black.</span></p></div> </div> </div> <div class="block block-paragraph-blocks block-paragraph-fieldnodefield-component-quick-links0research-topics"> <div class="component-quick-links-block component-quick-links-theme-" > <div class="paragraph paragraph--type--component-qu paragraph--view-mode--default responsive-container responsive-container-constrained"> <div class="component-quick-links-container"> <div class="component-quick-links-title"> <div class="field field--name-field-component-quick-links-tit field--type-string field--label-hidden field__item">More on Sickle Cell Disease</div> </div> <div class="component-quick-links-buttons"> <div class="field field--name-field-component-quick-links-refe field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"><div class="paragraph paragraph--type--component-quick-links paragraph--view-mode--default"> <a href="https://www.nhlbi.nih.gov/health/sickle-cell-disease"> <div class="component-quick-link-container"> <div class="component-quick-link-icon"> <div class="field field--name-field-component-quick-link-icon field--type-image field--label-hidden field__item"> <img loading="lazy" src="/modules/custom/nhlbi_blazy/images/clear.png" width="32" height="32" alt="Illustration of a document with the red cross medical symbol" data-src="/sites/default/files/styles/component_quik/public/component_quick_links/2022-03/document-solid-red1_5.png?itok=WKcuCFlc" class="b-lazy image-style-component-quik" /> </div> </div> <div class="component-quick-link-text">Patient Information</div> </div> </a> </div> </div> <div class="field__item"><div class="paragraph paragraph--type--component-quick-links paragraph--view-mode--default"> <a href="https://www.nhlbi.nih.gov/research/clinical-trials?f%5B0%5D=disease_or_condition_name%3ASickle%20Cell%20Disease"> <div class="component-quick-link-container"> <div class="component-quick-link-icon"> <div class="field field--name-field-component-quick-link-icon field--type-image field--label-hidden field__item"> <img loading="lazy" src="/modules/custom/nhlbi_blazy/images/clear.png" width="32" height="32" alt="Illustration of a microscope" data-src="/sites/default/files/styles/component_quik/public/component_quick_links/2022-03/microscope-alt-solid-red1_7.png?itok=HCWK0CHb" class="b-lazy image-style-component-quik" /> </div> </div> <div class="component-quick-link-text">Participate in a study</div> </div> </a> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="layout layout--onecol"> <div class="layout__region layout__region--content"> <div class="block block-layout-builder block-field-blocknoderesearch-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"> <h2 class="field--name-field-component-section-titl component-section-section-title">NHLBI research that really made a difference</h2> <div class="field field--name-field-component-section-desc field--type-text-long field--label-hidden clearfix field__item"><p><span class="normaltextrun">NHLBI-funded scientists found an effective sickle cell treatment in 1995. Results from the </span><a href="https://biolincc.nhlbi.nih.gov/studies/MSH/" rel="noreferrer"><span>NHLBI Multicenter Study of Hydroxyurea</span></a><span class="normaltextrun"> showed that hydroxyurea reduced the number of pain crises by 50% in adults with severe sickle cell disease. </span></p><p><span>Three years later, the FDA approved hydroxyurea to treat sickle cell disease in adults. Research to improve the use of hydroxyurea continued over the next decade. In 2011, results from an NHLBI-funded study called </span><a href="https://pubmed.ncbi.nlm.nih.gov/22915643/" rel="noreferrer"><span>BABY HUG</span></a><span> found hydroxyurea to be safe for young children who have sickle cell disease.</span></p><p> <div data-entity-type="node" data-entity-uuid="67826d33-5002-489c-b70d-e564310e7f6a" 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 milestones" data-src="/sites/default/files/styles/crop_callout/public/2024-08/nhlbi-sickle-cell-callout-01_0.jpg?itok=pZKWrMk-" 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>Milestones in Sickle Cell Disease Research </span></h3><p><span>Learn about the history of sickle cell disease in the United States and the NHLBI research that has made a difference. </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> </div> </div> </div> </div> </article> </div> </p></div> </div> </div> <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"> <h2 class="field--name-field-component-section-titl component-section-section-title">Current research funded by the NHLBI</h2> <div class="field field--name-field-component-section-content field--type-text-long field--label-hidden clearfix field__item"><p> <div data-entity-type="node" data-entity-uuid="f67251fb-22ee-4583-bdd7-c8d56681c788" 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-kicker field--type-string field--label-hidden field__item">Research Funding</div> <div class="field field--name-field-callout-description field--type-text-long field--label-hidden field__item"> <p>Find <a href="https://www.nhlbi.nih.gov/grants-and-training/funding-opportunities-and-contacts/all-funding-opportunity-announcements" rel="noreferrer">funding opportunities</a> and <a href="https://www.nhlbi.nih.gov/node/86392" rel="noreferrer">program contacts </a>for sickle cell disease research. </p> </div> </div> </div> </div> </div> </article> </div> <span>Our </span><a href="https://www.nhlbi.nih.gov/about/divisions/division-blood-diseases-and-resources" rel="noreferrer"><span>Division of Blood Diseases and Resources </span></a><span>and the </span><a href="https://www.nhlbi.nih.gov/about/divisions/division-intramural-research" rel="noreferrer"><span>Division of Intramural Research</span></a><span>, specifically the </span><a href="https://www.nhlbi.nih.gov/about/divisions/division-intramural-research/cellular-and-molecular-therapeutics-branch" rel="noreferrer"><span>Cellular and Molecular Therapeutics Branch</span></a><span> and the </span><a href="https://www.nhlbi.nih.gov/about/intramural-research/sickle-cell" rel="noreferrer"><span>Sickle Cell Branch</span></a><span>, oversee much of the research on sickle cell disease that we fund.</span></p><p> </p><h3>Current research on sickle cell disease treatment</h3><p><span>Many NHLBI-supported studies are looking at gene therapies and blood and marrow transplants (BMT) as transformative therapies for people with sickle cell disease.</span></p><p> <div data-entity-type="node" data-entity-uuid="c6ec73a2-0ef3-45f4-946d-b8839cd22276" 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-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="DNA" data-src="/sites/default/files/styles/crop_callout/public/2024-08/shutterstock_2303936189.jpg?itok=aUBCeE9n" 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">NHLBI News</div> <div class="field field--name-field-callout-description field--type-text-long field--label-hidden field__item"> <p><span>In December 2023, the FDA approved two</span> <span data-entity-type="node" data-entity-uuid="3c4ce4aa-1e17-470f-9373-16716a87b874" data-embed-button="node" data-entity-embed-display="entity_reference:entity_reference_entity_view" data-entity-embed-display-settings="[]" data-langcode class="entity-embed-glossary_term embedded-entity"> <a class="glossary-term" href="#" title="Definition of gene " alt="Definition of gene" data-term="gene" data-pronunciation="jeen" data-definition="The unit that passes heredity from parents to children. Genes are pieces of DNA and contain information for making a specific protein." role="link"> gene </a> </span> <span>therapies for some people with sickle cell disease. Everyone’s experience is different, but people treated with gene therapy tend to have less anemia, fewer health problems related to sickle cell, and better health-related quality of life. This important advance was built upon years of NHLBI-funded discoveries about the genes that cause sickle cell disease and affect disease severity and how best to perform gene therapy. </span></p> </div> <div class="nhlbi_text_link_button nhlbi_text_link_button_red field--name-field-callout-link"> <a href="https://www.nhlbi.nih.gov/news/2023/fda-approval-gene-therapies-sickle-cell-disease-dr-gibbons-dr-panepinto" aria-label="Learn more about these life-changing therapies in a Q&A with two NHLBI leaders.">Learn more about these life-changing therapies in a Q&A with two NHLBI leaders.<span class="fa-left-icon fa-li fa-li-red"><i class="fas fa-chevron-circle-right"></i></span></a> </div> </div> </div> </div> </div> </article> </div> </p><ul><li><span><strong>Speeding progress on cures: </strong>The </span><a href="https://www.nhlbi.nih.gov/science/cure-sickle-cell-initiative" rel="noreferrer"><span>Cure Sickle Cell Initiative</span></a><span> (CureSCi) is an NHLBI-led collaborative research effort to speed the development of gene therapies to treat sickle cell disease. CureSCi clinical trials focus on altering genes in patients’ own hematopoietic (blood-forming) stem cells so that the red blood cells do not sickle. Results from the first 10 participants in a phase 1 </span><a href="https://clinicaltrials.gov/study/NCT05353647" rel="noreferrer"><span>CureSCi clinical trial</span></a><span> showed that a type of gene therapy was safe and effective for reducing pain crises. Based on that early success, a </span><a href="https://curesickle.org/phase-2" rel="noreferrer"><span>phase 2 trial</span></a><span> of the same therapy began in 2024. </span></li><li><span><strong>Developing medicines to help the blood work better:</strong> The NHLBI’s Sickle Cell Branch scientists conducted an early-stage </span><a href="https://ashpublications.org/blood/article/140/19/2053/485276/A-phase-1-dose-escalation-study-of-the-pyruvate" rel="noreferrer"><span>study</span></a><span> of a medicine called mitapivat in people with sickle cell disease. The study showed that mitapivat decreased red blood cell sickling and breakdown and could be safely used to improve hemoglobin levels. Based on the promising results, other research groups carried out longer studies with more participants. Those studies showed that participants who took mitapivat for a year had fewer pain crises, in addition to improved hemoglobin levels and less sickling of red blood cells.</span></li><li><span><strong>Making blood transfusions safer</strong>: Many patients with sickle cell disease often receive blood transfusions to treat and prevent certain complications. NHLBI-funded researchers are exploring how to optimize </span><a href="https://reporter.nih.gov/search/V8fIH07ozEydSWAbztYgMw/project-details/10220124" rel="noreferrer"><span>safety and benefits of blood transfusions</span></a><span class="MsoHyperlink"> </span><span>for people living with the disease. </span></li><li><span><strong>Evaluating monthly exchange red blood cell transfusions: </strong>As people with sickle cell disease become adults, they may develop heart and lung diseases that can cause early death. Blood and heart ultrasound tests can identify patients at risk for these complications. The </span><a href="https://clinicaltrials.gov/study/NCT04084080?term=NCT04084080&rank=1" rel="noreferrer"><span>Sickle Cell Disease and Cardiovascular Risk — Red Cell Exchange (SCD–CARRE)</span></a><span> trial is testing monthly automated exchange transfusions as a strategy to reduce serious complications of sickle cell disease, improve symptoms, and prevent hospitalization and death. Exchange transfusions remove a person’s blood and replace it with red blood cells from a donor.</span></li><li><span><strong>Improving access to BMTs:</strong> The NHLBI collaborates with the National Cancer Institute in funding efforts to improve access to BMT through the </span><a href="https://bmtctn.net/what-we-do" rel="noreferrer"><span>BMT Clinical Trials Network</span></a><span>. Several studies are exploring options for people with sickle cell disease who don’t have a well-matched donor who is a family member. For example, </span><a href="https://clinicaltrials.gov/study/NCT03904134" rel="noreferrer"><span>one study</span></a><span> is comparing treatment of severe sickle cell disease with BMTs using cells from either an unrelated immune-matched donor or from a mismatched donor.</span></li></ul><p><span>Find more NHLBI-funded studies on </span><a href="https://reporter.nih.gov/search/WoJJrOT_EkiAu7fUY5SGXQ/projects?projects=Active" rel="noreferrer"><span>sickle cell disease treatment</span></a><span> at NIH RePORTER. Information on </span><a href="https://www.nhlbi.nih.gov/research/clinical-trials?query=treatment&f%5b0%5d=disease_or_condition_name%3ASickle%20Cell%20Disease" rel="noreferrer"><span>NHLBI-supported sickle cell disease treatment clinical trials</span></a><span> is also available.</span></p><h3>Current research on managing sickle cell pain</h3><ul type="disc"><li><span><strong>Exploring new ways to reduce the pain crises:</strong> Pain crises — also called sickle cell crises or vaso-occlusive crises — affect nearly all people with sickle cell disease. These crises are the leading cause of emergency department visits and hospitalizations for people with the disease. An </span><a href="https://ashpublications.org/blood/article/136/12/1402/454971/Impact-of-arginine-therapy-on-mitochondrial" rel="noreferrer"><span>NHLBI-funded study</span></a><span> found that treating children with arginine could lower inflammation linked with sickle cell pain crises and lower the amount of opioid medicine needed to manage pain. </span></li><li><span><strong>Promoting guideline-based care for sickle cell pain:</strong> Too often, healthcare providers in emergency departments do not follow guidelines for treating pain. This leads to delays in treatment, more pain, and more hospitalizations. In addition, racism may be a barrier to care. An NHLBI-supported </span><a href="https://clinicaltrials.gov/study/NCT05373771?tab=table" rel="noreferrer"><span>study</span></a><span> is testing a care pathway to promote guideline-based care for children being treated in emergency departments for pain crises. </span></li><li><span><strong>Innovating approaches to reduce sickling: </strong>Through its Small Business Innovation Research program, the NHLBI is supporting the development of a </span><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8804574/" rel="noreferrer"><span>nanoparticle-based therapy</span></a><span> for sickle cell disease. Heparin is a medicine that shows some potential benefits for sickle cell disease, but it can raise the chance of bleeding. This project is testing a nanoparticle version of heparin in animal models and lab tests to learn whether the compound can lower sickling of red blood cells without unwanted side effects. If the </span><a href="https://reporter.nih.gov/search/56-fzkz-iU-g2qLQ5W0OmA/project-details/10709882" rel="noreferrer"><span>project</span></a><span> succeeds, the nanoparticle version of heparin will be readied for first-in-human studies. </span></li><li><span><strong>Studying the role of gut bacteria in pain of sickle cell disease:</strong> NHLBI-funded scientists are studying the gut microbiome — microbes living in the intestines — of people with sickle cell disease. This is </span><a href="https://reporter.nih.gov/search/atP3e49a3Eqs7XByiRKtXg/project-details/10462603" rel="noreferrer"><span>the first study</span></a><span> of the role the microbiome may play in causing sickle cell pain crises and long-term pain. Other studies have shown that an out-of-balance microbiome can worsen the pain of some</span> <span data-entity-type="node" data-entity-uuid="a4d15e2b-790e-44cb-8d7c-3dca916ba510" 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 inflammatory " alt="Definition of inflammatory" data-term="inflammatory" data-pronunciation="in-FLA-muh-TOR-ee" data-definition="Having to do with inflammation (redness, swelling, pain, and a feeling of heat that helps protect tissues affected by injury or disease)." role="link"> inflammatory </a> </span> <span>diseases such as rheumatoid arthritis. </span></li></ul><p><span>Find more NHLBI-funded studies on </span><a href="https://reporter.nih.gov/search/0Dtv0IthEE-ySVDAuRBNjg/projects?projects=Active&sort_field=AwardAmount&sort_order=desc" rel="noreferrer"><span>pain management in sickle cell disease</span></a><span> at NIH RePORTER.  Information on </span><a href="https://www.nhlbi.nih.gov/research/clinical-trials?query=pain&f%5b0%5d=disease_or_condition_name%3ASickle%20Cell%20Disease" rel="noreferrer"><span>NHLBI-supported sickle cell disease pain related clinical trials</span></a><span> is also available.</span></p><h3>Current research into sickle cell trait</h3><p><span>People with sickle cell disease have two genes for hemoglobin S. In contrast, people with sickle cell trait have one gene for hemoglobin S and another gene for normal hemoglobin A. Though most people who have sickle cell trait don’t have any symptoms, some may experience symptoms in rare situations. The NHLBI is supporting research to better understand health concerns that people who have sickle cell trait might face. </span></p><ul><li><span><strong>Studying health risks linked with sickle cell trait: </strong>Two NHLBI scientists </span><a href="https://haematologica.org/article/view/8924" rel="noreferrer"><span>reviewed</span></a><span> evidence of links between sickle cell trait and various health problems. People with sickle cell trait live as long as people who don’t have the trait. The review included findings of a study of nearly 48,000 Black soldiers that showed that soldiers with sickle cell trait did not have higher rates of sudden death compared to soldiers without the trait. Sickle cell trait slightly raised the chance of rhabdomyolysis (muscle damage) with extreme exertion. Studies also suggest that sickle cell trait raises the chance of kidney disease and </span><a href="https://www.nhlbi.nih.gov/health/venous-thromboembolism" rel="noreferrer"><span>venous thromboembolism</span></a><span>.</span></li><li><span><strong>Detecting early signs of dangerous blood clots:</strong> An </span><a href="https://clinicaltrials.gov/study/NCT04349189" rel="noreferrer"><span>NHLBI clinical trial</span></a><span> is studying blood clotting and markers of inflammation in people with sickle cell trait or sickle cell disease to identify risk factors for venous thromboembolism. The researchers are comparing data from people who have had venous thromboembolism and people who do not have the condition to find possible links with sickle cell disease or trait. </span></li></ul><h3>Current research to improve access to care for sickle cell disease </h3><p><span>Despite their extensive healthcare needs, many people living with sickle cell disease have difficulty getting appropriate care. People often report feeling stigmatized and having their symptoms dismissed when they do seek care. The NHLBI is committed to research that will help lower the barriers patients face when seeking sickle cell disease treatment and trying to stick with their treatment plan. </span></p><ul><li><span><strong>Understanding transitions in care for sickle cell disease:</strong> NHLBI-funded researchers looked at health records of 472 young people between 18 and 24 years old who received care for sickle cell disease at an Alabama clinic. The scientists checked to see how many engaged with adult care for sickle cell disease after receiving care in a pediatric clinic. The scientists found that less than half of the participants successfully transferred to adult care. Factors that led to successful transfers included engaging with pediatric and adult care at the same hospital, and being treated with hydroxyurea or blood transfusions. Many of those who did not transfer to adult clinics had dropped out of care by 15 years old. </span><a href="https://pubmed.ncbi.nlm.nih.gov/36617736/" rel="noreferrer"><span>Read more about the study.</span></a></li><li><span><strong>Finding ways to help children continue hydroxyurea treatment:</strong> In 2014, the NHLBI published treatment guidelines that recommended offering hydroxyurea to all children and youth over 9 months old who have sickle cell disease. However, </span><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313146/" rel="noreferrer"><span>a study</span></a><span> in New York State and Michigan found that only 1 in 3 children were taking this important medicine as prescribed. The scientists suggested that education programs for healthcare providers and families might help more children stick with this lifesaving treatment.</span></li><li><span><strong>Overcoming barriers to lowering stroke risk in children with sickle cell disease:</strong> Sickle cell disease greatly increases the risk of stroke in children, but regular screenings and treatments can reduce stroke risk by more than 90%. The NHLBI-funded Dissemination and Implementation of Stroke Prevention Looking at the Care Environment (DISPLACE) study aimed to improve access to stroke screening for children with sickle cell disease. </span><a href="https://pubmed.ncbi.nlm.nih.gov/34376249/" rel="noreferrer"><span>DISPLACE researchers identified factors</span></a><span> that are barriers to effective stroke screening, such as challenges in scheduling ultrasound scans, a need for appointment reminders, and a lack of information and education about stroke screening. </span><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481351/" rel="noreferrer"><span>Only about half of children received recommended ultrasound scans.</span></a><span> The scientists also noted the </span><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11259935/" rel="noreferrer"><span>need to improve training</span></a><span> of healthcare providers who perform and interpret the scans. The DISPLACE results are important for ensuring more consistent use of guideline-directed screening and treatment.</span></li><li><span><strong>Promoting education about genetic therapies for sickle cell disease:</strong> As part of the National Institutes of Health (NIH), the NHLBI supports efforts to help people understand the basics of hemoglobin disorders as well as transformative treatments. The NIH’s </span><a href="https://www.genome.gov/research-at-nhgri/Projects/Democratizing-Education" rel="noreferrer"><span>Sickle Cell Disease Gene Therapy Education Project</span></a><span> provides educational materials to help people understand gene therapies so they can make informed decisions. The materials reflect the input of patients, parents of patients, healthcare providers, community-based organizations, advocacy groups, industry leaders, government representatives, and researchers. The website includes </span><a href="https://www.genome.gov/research-at-nhgri/Projects/Democratizing-Education/sickle-cell-disease-gene-therapy-FAQ" rel="noreferrer"><span>a set of FAQs</span></a><span> that can help guide discussions between people with sickle cell disease and their providers.</span></li></ul><p><span>Find NHLBI-funded studies on </span><a href="https://reporter.nih.gov/search/TU5UoF1CZU-zJEY4M-pCjw/projects" rel="noreferrer"><span>health disparities and sickle cell disease</span></a><span> at NIH RePORTER. Explore </span><a href="https://www.nhlbi.nih.gov/research/clinical-trials?query=health%20disparities&f%5b0%5d=disease_or_condition_name%3ASickle%20Cell%20Disease" rel="noreferrer"><span>health disparities sickle cell disease trials</span></a>.</p></div> </div> </div> <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"> <h2 class="field--name-field-component-section-titl component-section-section-title">Sickle cell disease research labs at the NHLBI</h2> <div class="field field--name-field-component-section-content field--type-text-long field--label-hidden clearfix field__item"><p>Researchers from the NHLBI <a href="https://www.nhlbi.nih.gov/about/divisions/division-intramural-research" rel="noreferrer">Division of Intramural Research</a>, which includes investigators in our <a href="https://www.nhlbi.nih.gov/about/intramural-research/sickle-cell" rel="noreferrer">Sickle Cell Branch</a>, are focused on developing new treatments for sickle cell disease. <span>The </span><a href="https://www.nhlbi.nih.gov/science/sickle-cell-genetics-and-pathophysiology" rel="noreferrer"><span>Sickle Cell Genetics and Pathophysiology Lab</span></a><span> studies the genetic and biological factors underlying the variability of sickle cell disease symptoms and complications.</span></p><ul type="disc"><li><span>NHLBI scientists are using the ReFRAME Drug Repurposing Library, which lists</span><a href="https://www.pnas.org/doi/full/10.1073/pnas.2210779119" rel="noreferrer"><span> medicines that are approved by the FDA</span></a><span> and have the potential to treat or prevent sickle cell pain crises at lower cost. By screening the medicines in the library, scientists discovered 106 compounds that stop sickling of hemoglobin. Further analysis showed that 21 compounds could be potential treatments to prevent pain crises. </span></li><li><span>The NHLBI set up the </span><a href="https://www.nhlbi.nih.gov/science/biologic-specimen-and-data-repository-information-coordinating-center-biolincc" rel="noreferrer"><span>Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC)</span></a><span> in 2008. BioLINCC has since expanded to include samples and data from more than 580,000 people participating in more than 180 studies. With the addition of the Cure Sickle Cell Hematopoietic Stem Cell Collection study in 2022, </span><a href="https://biolincc.nhlbi.nih.gov/studies/curesc_scd/#available-biospecimens-card-title" rel="noreferrer"><span>samples of stem cells</span></a><span> and </span><a href="https://biolincc.nhlbi.nih.gov/studies/hct_for_scd/" rel="noreferrer"><span>study data</span></a><span> from people with sickle cell disease became available to support research. </span></li></ul><p><span>Read more about these projects and </span><a href="https://www.nhlbi.nih.gov/research/clinical-trials?f%5B0%5D=disease_or_condition_name%3ASickle%20Cell%20Disease" rel="noreferrer"><span>ongoing clinical trials</span></a><span>.</span></p></div> </div> </div> <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"> <h2 class="field--name-field-component-section-titl component-section-section-title">Related sickle cell disease programs</h2> <div class="field field--name-field-component-section-content field--type-text-long field--label-hidden clearfix field__item"><p><span>The NHLBI leads and supports many programs and initiatives around the nation and the world as we work to improve the lives of people with sickle cell disease.</span></p><p> <div data-entity-type="node" data-entity-uuid="f7756949-b7cb-4eb4-90ac-e3a9dea9f1e7" 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":"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="405" alt="sickle cell in focus" data-src="/sites/default/files/styles/crop_callout/public/2024-08/sci.png?itok=a6k2p2dR" class="b-lazy image-style-crop-callout"> </div> </div> <div class="callout-descriptive-text"> <div class="field field--name-field-callout-description field--type-text-long field--label-hidden field__item"> <h3><span>The NHLBI Hosted 2023 Conference on Sickle Cell Disease</span></h3><p><span>The 16th annual </span><a href="https://www.nhlbi.nih.gov/events/2023/sickle-cell-focus-2023" rel="noreferrer"><span>2023 Sickle Cell in Focus</span></a><span> (SCiF) conference was held in October 2023 and co-hosted by the NHLBI and the University of West Indies. View video recordings of the 2023 conference: </span></p><ul><li><span>Day 1, October 10: </span><a href="https://videocast.nih.gov/watch=52475" rel="noreferrer"><span>https://videocast.nih.gov/watch=52475</span></a><span> </span></li><li><span>Day 2, October 11: </span><a href="https://videocast.nih.gov/watch=52477" rel="noreferrer"><span>https://videocast.nih.gov/watch=52477</span></a></li></ul> </div> <div class="nhlbi_text_link_button nhlbi_text_link_button_red field--name-field-callout-link"> <a href="https://www.eventbrite.com/e/17th-annual-sickle-cell-in-focus-conference-tickets-915407577707?aff=oddtdtcreator" aria-label="Registration is open for the 17th conference to be held in September 2024. ">Registration is open for the 17th conference to be held in September 2024. <span class="fa-left-icon fa-li fa-li-red"><i class="fas fa-chevron-circle-right"></i></span></a> </div> </div> </div> </div> </div> </article> </div> </p><p><br> </p><ul type="disc"><li><span>The  </span><a href="https://www.nhlbi.nih.gov/science/recipient-epidemiology-and-donor-evaluation-study-reds-program" rel="noreferrer"><span>Recipient Epidemiology and Donor Evaluation Study Program</span></a><span> tests transfusion therapies and improves their safety and success. The program also works to address potential emerging threats to the United States’ blood supply and serves as a resource for work in transfusion research.</span></li><li><span>The NHLBI has taken a lead role in managing the </span><a href="https://www.nih.gov/rmi" rel="noreferrer"><span>Regenerative Medicine Innovation Project</span></a><span> under the </span><a href="https://www.nih.gov/research-training/medical-research-initiatives/cures" rel="noreferrer"><span>21st Century Cures Act</span></a><span>. Beginning in 2017, the Act authorized the investment of $30 million in clinical research with adult stem cells to treat diseases, including sickle cell disease.</span></li><li><span>Most people who have sickle cell disease live in Africa. The NHLBI supports three major programs in sub-Saharan Africa across 9 countries and 11 cities. The </span><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240392/" target="_blank" rel="noopener noreferrer"><span>Sickle Pan-African Research Consortium</span></a><span>, the </span><a href="https://wagmc.org/research-2/sicklegenafrica/" target="_blank" rel="noopener noreferrer"><span>Sickle Cell Disease Genomics Network of Africa (SickleGenAfrica)</span></a><span>, and </span><a href="https://reporter.nih.gov/search/jGeP5Cg6qEmvdZ5CFCbAHA/project-details/10444370" rel="noreferrer"><span>Realizing Effectiveness Across Continents with Hydroxyurea (REACH)</span></a><span> are all working to build research capacity and enhance disease surveillance and delivery of care. Their efforts have led to successes: </span><ul><li><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930989/" rel="noreferrer"><span>The Sickle Pan-African Research Consortium</span></a><span> demonstrated that widespread newborn screening for sickle cell disease is possible is sub-Saharan Africa.</span></li><li><span class="MsoHyperlink"></span><a href="https://pubmed.ncbi.nlm.nih.gov/34301659/" rel="noreferrer"><span>The SickleGenAfrica Network</span></a><span> developed an ethics framework and presented findings from community engagement in Ghana, Nigeria, and Tanzania.</span><span class="MsoHyperlink"></span></li><li><a href="https://pubmed.ncbi.nlm.nih.gov/36375125/" rel="noreferrer"><span>REACH researchers</span></a><span> found that hydroxyurea treatment is linked with lower malaria incidence in children with sickle cell anemia in sub-Saharan Africa</span><span class="MsoHyperlink">.</span><span> </span></li></ul></li></ul><p> <div data-entity-type="node" data-entity-uuid="cfa4c8cd-a0ab-4c74-b7cc-293fe9976c20" 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":"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="405" alt="sickle cell" data-src="/sites/default/files/styles/crop_callout/public/2024-08/AdobeStock_445838006_Branding%20Concept%202%20-%20NHLBI%26%23039%3Bs%20Annual%20Sickle%20Cell%20Disease%20Research%20Meeting%20%28.jpeg?itok=4GK1oE54" class="b-lazy image-style-crop-callout"> </div> </div> <div class="callout-descriptive-text"> <div class="field field--name-field-callout-description field--type-text-long field--label-hidden field__item"> <h3><span>NHLBI Annual Conference Highlights Recent Advances in Sickle Cell Disease Research and Care<strong> </strong></span></h3><p><span>The yearly </span><a href="https://www.nhlbi.nih.gov/events/2024/nhlbis-annual-sickle-cell-disease-research-meeting" rel="noreferrer"><span>NHLBI Sickle Cell Disease Research Meeting</span></a><span> is a forum for scientists and healthcare providers to learn about ongoing research in the scientific and clinical aspects of the disease. View recordings of the 3-day, 2024 meeting:</span></p><ul><li><span>Day 1, August 12: </span><a href="https://videocast.nih.gov/watch=54991" rel="noreferrer"><span>https://videocast.nih.gov/watch=54991</span></a><span> </span></li><li><span>Day 2, August 13: </span><a href="https://videocast.nih.gov/watch=54992" rel="noreferrer"><span>https://videocast.nih.gov/watch=54992</span></a><span> </span></li><li><span>Day 3, August 14: </span><a href="https://videocast.nih.gov/watch=54993" rel="noreferrer"><span>https://videocast.nih.gov/watch=54993</span></a><span>  </span></li></ul> </div> </div> </div> </div> </div> </article> </div> </p></div> </div> </div> </div> </div> </div> </div> </div> <div class="layout layout--onecol"> <div class="layout__region layout__region--content"> <div class="block block-layout-builder block-field-blocknoderesearch-topicsfield-component-explore-more-res"> <div class="field field--name-field-component-explore-more-res field--type-entity-reference-revisions field--label-hidden field__item"> <div class="paragraph component component-explore-more-research component-theme-light-blue component-explore-more-research-theme-light-blue component-explore-more-research-node-theme-red paragraph--type--component-explore-more-research paragraph--view-mode--default"> <div class="responsive-container responsive-container-constrained"> <h2 class="field--name-field-component-section-titl component-explore-more-research-section-title">Explore more NHLBI research on sickle cell disease</h2> <div class="field field--name-field-component-section-desc field--type-text-long field--label-hidden field__item"><p><span>The sections above give you the highlights of NHLBI-supported research on sickle cell disease. You can explore the full list of NHLBI-funded </span><a href="https://www.nhlbi.nih.gov/research/clinical-trials?f%5b0%5d=disease_or_condition_name%3ASickle%20Cell%20Disease" rel="noreferrer"><span>clinical studies</span></a><span> on </span><a href="https://reporter.nih.gov/" rel="noreferrer"><span>NIH RePORTER</span></a><span>.</span></p></div> <div class="field field--name-field-component-section-content field--type-text-long field--label-hidden field__item"><p class="MsoNormal"><span style="font-family:"Calibri",sans-serif;mso-fareast-font-family:"Yu Gothic Light";mso-fareast-theme-font:major-fareast;">To find more studies using NIH RePORTER:<o:p></o:p></span></p><ul style="margin-top:0in;" type="disc"><li class="MsoNormal" style="mso-list:l0 level1 lfo1;tab-stops:list .5in;"><span style="font-family:"Calibri",sans-serif;mso-fareast-font-family:"Yu Gothic Light";mso-fareast-theme-font:major-fareast;">Type your search words into the Quick Search box and press enter. <o:p></o:p></span></li><li class="MsoNormal" style="mso-list:l0 level1 lfo1;tab-stops:list .5in;"><span style="font-family:"Calibri",sans-serif;mso-fareast-font-family:"Yu Gothic Light";mso-fareast-theme-font:major-fareast;">Check Active Projects if you want current research.<o:p></o:p></span></li><li class="MsoNormal" style="mso-list:l0 level1 lfo1;tab-stops:list .5in;"><span style="font-family:"Calibri",sans-serif;mso-fareast-font-family:"Yu Gothic Light";mso-fareast-theme-font:major-fareast;">Select the Agencies arrow, then the NIH arrow, then check NHLBI.<o:p></o:p></span></li></ul><p class="MsoNormal"><span style="font-family:"Calibri",sans-serif;mso-fareast-font-family:"Yu Gothic Light";mso-fareast-theme-font:major-fareast;">If you want to sort the projects by budget size — from the biggest to the smallest — click on the FY Total Cost by IC column heading.<o:p></o:p></span></p></div> </div> </div> </div> </div> </div> </div> <div class="layout layout--onecol"> <div 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