Sickle Cell Disease Research
The National Institutes of Health (NIH) has supported research on sickle cell disease since before the NHLBI was founded in 1948. With each decade that followed, the NHLBI has kept a sustained focus on advancing the understanding of sickle cell disease and improving clinical care. We lead and support research and programs on sickle cell disease in the United States and around the world. Research and initiatives supported by the NHLBI work to improve treatments and evidence-based clinical care for all individuals living with sickle cell disease.
We are committed to building on our legacy of research excellence to find new treatments, cures, and personalized care for the approximately 100,000 Americans and over 20 million people worldwide who have sickle cell disease. See the timeline Sickle Cell Disease: A Legacy of Research Excellence for more information.
NHLBI research that really made a difference
NHLBI-funded scientists found an effective sickle cell treatment in 1995. Results from the NHLBI Multicenter Study of Hydroxyurea showed that hydroxyurea reduced the number of painful episodes by 50% in severely affected adults with sickle cell disease. Three years later, the U.S. Food and Drug Administration approved hydroxyurea to treat sickle cell disease in adults. Research into optimizing the use of hydroxyurea continued over the next decade. In 2011, results from an NHLBI-funded study called BABY HUG found hydroxyurea to be safe for young children who have sickle cell disease.
Current research funded by the NHLBI
Our Division of Blood Diseases and Resources and the Division of Intramural Research, specifically the Cellular and Molecular Therapeutics Branch and the Sickle Cell Branch, oversee much of the research on sickle cell disease that we fund.
Current research on sickle cell disease treatment
Many current studies are looking at how to use genetic therapies and blood and bone marrow transplants to discover new treatment options for patients.
- Advances in genetics over the last decade may make effective gene-based treatments a reality for people with sickle cell disease. Through funding by the NHLBI and other collaborations, researchers are developing easy-to-administer gene-based interventions.
- Research funded through NHLBI’s Excellence in Hemoglobinopathies Research Award program explores the regulation of a type of hemoglobin that is active during fetal life but is silenced in adulthood. Related research uses gene editing to activate fetal hemoglobin in red blood cells and genetic therapies to target BCL11A, both of which could help treat patients with sickle cell disease.
- Many patients with sickle cell disease receive frequent blood transfusions to treat and prevent certain complications. NHLBI-funded researchers are investigating the beneficial and harmful effects of blood transfusions in patients with this condition. In addition, researchers are developing more effective medicine support for blood transfusions when patients undergo bone marrow transplantation. This research is critical because a blood and bone marrow transplant is currently the only cure for many people living with sickle cell disease.
- The NHLBI also funds efforts to improve bone marrow transplantation (BMT) through the BMT Clinical Trials Network. For example, one current trial is investigating treatment of severe sickle cell disease with a BMT procedure that involves either a related or unrelated immune-matched donor.
Find more NHLBI-funded studies on sickle cell disease treatment at NIH RePORTER.
Current research on pain management
- Vaso-occlusive crises are painful episodes that affect many people with sickle cell disease. The crises are the leading cause of emergency department visits and hospitalizations. As part of the Sickle Cell Disease Treatment with Arginine Therapy (STArT) Trial, NHLBI-funded researchers found that patients with sickle cell disease and pain also had low levels of an amino acid called arginine in their blood. The study is investigating whether arginine supplements can reduce pain in patients. Other NHLBI-funded research seeks to determine the best way to calculate dosages of pain medicine for patients with vaso-occlusive episodes (severe pain that occurs when the sickle-shaped cells block blood flow to a part of the body).
- Pain and sickle cell disease often go hand-in-hand, but the exact cause of this pain is not well understood. NHLBI-funded researchers are using animal models of sickle cell disease to better understand the causes and treatments of chronic pain experienced by patients with sickle cell disease.
Find more NHLBI-funded studies on pain management in sickle cell disease at NIH RePORTER.
Current research on improving care for all people with sickle cell disease
The NHLBI is committed to research that will help reduce the barriers patients face when accessing sickle cell disease treatment.
- The Sickle Cell Disease Implementation Consortium (SCDIC) receives funding from the NHLBI to conduct studies that will improve how children and adolescents with sickle cell disease receive routine care.
- A newer initiative called Disparities Elimination through Coordinated Interventions to Prevent and Control Heart and Lung Disease Risk (DECIPHeR) is addressing health disparities through community engagement. The program will work with faith-based organizations, schools, healthcare, and social services to improve access to necessary clinical care. In addition, current NHLBI-funded research, as part of the Dissemination and Implementation of Stroke Prevention: Looking At the Care Environment (DISPLACE) study, is working to improve screening measures in children with sickle cell disease to lower the number of preventable strokes.
Find more NHLBI-funded studies on health disparities and sickle cell disease at NIH RePORTER.
Sickle cell disease research labs at NHLBI
- Intramural NHLBI researchers have developed a new and improved viral vector — a virus-based vehicle that delivers therapeutic genes — for use in genetic therapy for sickle cell disease.
- The NHLBI established the Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC) in 2008. Since then, it has grown to include datasets from more than 140 epidemiological studies and clinical trials and about 4 million specimen collections, including from patients with sickle cell disease. Researchers within the NHLBI recently used data from the BioLINCC to reaffirm that hydroxyurea is safe and effective for very young children with sickle cell disease.
Read more about these projects and ongoing clinical trials.
Related sickle cell disease programs
The NHLBI leads and supports many programs and initiatives around the nation and the world as we search for a cure and work to improve the lives of people with sickle cell disease.
- The NHLBI’s annual Sickle Cell Disease Research Meeting brings together investigators, practitioners, and healthcare providers to discuss the progress of ongoing clinical trials and hear presentations about new developments in scientific and clinical aspects of sickle cell disease.
- The NHLBI supports three major programs in sub-Saharan Africa across 9 countries and 11 cities: The Sickle Pan-African Research Consortium, the Sickle Cell Disease Genomics Network of Africa, and the Realizing Effectiveness Across Continents with Hydroxyurea (REACH) Program. All are working to build research capacity and develop an infrastructure to enhance disease surveillance and delivery of care.
- The NHLBI participates in the Stimulating Hematology Investigation: New Endeavors (SHINE) Program, which focuses on basic and early translational hematology research and encourages applications from investigators at all career stages.
- The Recipient Epidemiology and Donor Evaluation Study (REDS) Program evaluates and improves the safety and effectiveness of transfusion therapies. The program also works to proactively address potential emerging threats to the United States’ blood supply and serves as a resource for ongoing work in transfusion research.
- The NHLBI Hope for Sickle Cell Challenge encourages college and graduate students to develop innovative information dissemination tools, instruments, or devices that help spread evidence-based information about sickle cell disease, so that people with the disease can live better, healthier lives.
- The NHLBI has taken a lead role in managing the Regenerative Medicine Innovation Project (RMIP) under the 21st Century Cures Act. 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.
Explore more NHLBI research on sickle cell disease
The sections above provide you with the highlights of NHLBI-supported research on sickle cell disease. You can explore the full list of NHLBI-funded studies on the NIH RePORTER.