The NHLBI is part of the U.S. Department of Health and Human Services’ National Institutes of Health (NIH)—the nation’s biomedical research agency that makes important scientific discovery to improve health and save lives. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders including sickle cell disease. Learn about the current and future NHLBI efforts to improve health throughand scientific discovery.
Improving health with current research
Learn about some of the ways we continue to translate current research into improved health for people with sickle cell disease.
- Evidence-Based Management of Sickle Cell Disease: 2014 Expert Panel Report. We supported a review and analysis of the latest sickle cell disease research and the creation of this summary report. This report offers guidance to health care professionals on how best to care for their patients with sickle cell disease. Explore the Expert Panel Report materials and talk to your doctor about this report.
- NHLBI-funded Registry and Surveillance System for Hemoglobinopathies (RuSH) project. In 2010, we partnered with the Centers for Disease Control (CDC) and Prevention and funded its RuSH project. This project is studying how many people have sickle cell disease and thalassemia in parts of the United States. RuSH will inform future national disease and health status monitoring strategies, as well as the targeted delivery of health education materials. Visit CDC RuSH for more information.
- NHLBI-funded Transfusions Changing to Hydroxyurea (TWiTCH) study. Our TWiTCH study found that hydroxyurea is as effective as blood transfusions at reducing transcranial Doppler (TCD) blood velocities in children with sickle cell disease. High TCD blood velocities are a risk factor for stroke in children with sickle cell disease. Read a NIH press release about the TWiTCH study findings.
- NIH-wide translational research support for next generation sickle cell disease treatments. We supported trans-NIH efforts leading to the development of a promising new sickle cell disease treatment called Aes-103, which may reduce pain caused by sickle cell disease. Read a NIH press release to learn more about the development of Aes-103.
- Sickle Cell Disease Forum 2015. We sponsored this forum to bring together the sickle cell disease community—patients and their families, advocates, health care professionals, researchers, community and professional organizations, policymakers, government agencies, industry, and the media—to help chart the future of sickle cell disease research. Read the Sickle Cell Disease Forum Engaging the Community: Developing Solutions for a summary of discussions from this two-day event. Explore other resources from this forum.
- Sickle Cell in Focus Conference 2016. We co-sponsored this international event to bring together researchers and health professionals to discuss new advances and challenges for sickle cell disease clinical care. Explore resources from this conference.
- Annual Sickle Cell Disease Clinical Research Meetings. Each year, we bring together researchers and health professionals to discuss clinical trials, research and clinical care for sickle cell disease. Explore resources from the 2016 annual meeting.
- Global leadership in sickle cell disease research and care. We are proud to serve as a global leader and respond to legislative calls to increase U.S. global health efforts. The NHLBI Global Health Strategic Plan seeks to stimulate global health research, education and training for many conditions, including sickle cell disease in sub-Saharan Africa and Southeast Asia, where disease burden is high. Also, we are collaborating with other NIH Institutes and Centers in Human Heredity and Health in Africa (H3Africa) projects.
Learn about some of the pioneering research contributions we have made over the years that have improved clinical care and increased the life expectancy for people with sickle cell disease.
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In 1973, the average life expectancy was 14 years for people with sickle cell disease in the United States. Now, the average life expectancy is about 40 to 60 years, in part because of the following landmark NHLBI-funded studies.
- Prophylaxis with Oral Penicillin in Children with Sickle Cell. Showed that penicillin prophylaxis in children could prevent deadly infections.
- Multicenter Study of Hydroxyurea (MSH) in Patients with Sickle Cell Anemia and the Hydroxyurea to Prevent Organ Damage in Children with Sickle Cell Anemia (BABY HUG) Trials. Showed that daily hydroxyurea use decreased episodes and frequency of pain crises and acute chest syndrome as well as need for hospitalization and transfusion.
- Stroke Prevention Trial in Sickle Cell Anemia (STOP) Trials. Showed that yearly transcranial Doppler screening and chronic blood transfusions reduced the risk of stroke in high-risk patients.
Advancing research for improved health
In support of our mission, we are committed to advancing sickle cell disease research in part through the following ways.
- We perform research. Our Division of Intramural Research, which includes investigators in our Sickle Cell Branch and Sickle Cell Program, is actively engaged in sickle cell disease research. In support of a Department of Health and Human Services sickle cell program, our Sickle Cell Branch leads a government-wide collaboration to rapidly move new discoveries into treatments for patients.
- We fund research. The research we fund today will help improve our future health. Our Division of Blood Diseases and Resources (DBDR) oversees the sickle cell disease research we fund, as well as the external clinical research centers. The Research centers funded by our Excellence in Hemoglobinopathies Research Award (EHRA) program are helping us understand, measure, and treat pain; non-invasively assess blood flow; prevent stroke or blood clots in the lungs; manage disease complications; and see if modifying how genes are expressed can be used to treat sickle cell disease. Search the NIH Research Portfolio Online Reporting Tools (RePORT) to learn about research NHLBI is funding on sickle cell disease.
- We stimulate high-impact research. Our Trans-Omics for Precision Medicine (TOPMed) Program now includes participants with sickle cell disease, which may help us understand how genes contribute to differences in disease severity and how patients respond to treatment. The NHLBI Strategic Vision highlights ways we may support research over the next decade, including new efforts for sickle cell disease.
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Learn about other exciting ways we are advancing research to improve the lives of people with sickle cell disease.
- Developing rapid diagnostic testing to reduce childhood mortality due to sickle cell disease in Sub-Saharan Africa. In sub-Saharan Africa, an estimated 50 to 90 percent of children with sickle cell disease will die young. Newborn screening programs coupled with prophylactic penicillin and pneumococcal vaccines have been very effective at reducing the risk of death from sickle cell disease among children in Northern Africa. Therefore, we are funding the development of rapid, accurate, and low-cost tests to diagnose sickle cell disease and sickle cell trait that can enable more widespread screenings of newborns in Africa.
- Funding global health research efforts. We are funding the Sickle Cell Disease in Sub-Saharan Africa (SCD in SSA) Collaborative Consortium and SCD in SSA Data Coordinating Center to build capabilities to research sickle cell disease and monitor patients in Africa.
- Funding research to improve care for U.S. adolescents and adults with sickle cell disease. We are funding the Sickle Cell Disease Implementation Consortium (SCDIC) and SCDIC Data Coordinating Center to understand current barriers to care, test interventions to overcome those barriers, and develop a new sickle cell disease registry.
- Exploring ways gene therapy may help develop new treatments or find a cure for sickle cell disease. As new therapeutic targets are found, there is great interest to use gene editing or gene transfer techniques to treat or even cure sickle cell disease. One possible target is fetal hemoglobin, because increased fetal hemoglobin helps protect against the effects of hemoglobin S protein. Researchers are exploring whether gene editing can help reactivate expression of fetal hemoglobin genes already in blood cells. They are also looking at whether they can introduce and express new fetal hemoglobin genes in blood cells of patients with sickle cell disease.
- Understanding how genes may affect how sickle cell disease patients experience pain. NHLBI-funded research has found that more frequent and severe pain crises may predict a worse outcome for people with sickle cell disease. We are interested in researching how genes may contribute to how people with sickle cell disease experience different amounts and frequencies of pain.
- Improving stem cell transplants for adults with sickle cell disease. We are investigating ways to decrease rejection of stem cell transplants in adults, which may help more people with sickle cell disease become eligible for these procedures. Read Feels Like a Cure and The sky’s the limit to see how some of these NHLBI-led efforts are improving the lives of patients with sickle cell disease.
- Participate in NHLBI Clinical Trials will discuss some of our sickle cell disease clinical trials. It also includes studies that look at how to improve stem cell transplants for adults with sickle cell disease and how genes and other factors contribute to pain crises in sickle cell disease.