NEWS AND PUBLICATIONS
An Article BY Nnantah, I. R. (2025). The rights of a sickle cell child to a wrongful life claim in Nigeria. CIFILE Journal of International Law (CJIL), 5(11), 107–121. https://doi.org/10.30489/cifj.2024.415094.1106
CLINICAL UPDATES
Groundbreaking progress in gene therapy is offering new hope for people living with sickle cell disease. The Cure Sickle Cell Initiative (CureSCi), led by the National Heart, Lung, and Blood Institute (NHLBI), is testing therapies that modify a patient’s own blood-forming stem cells to prevent sickling. In an early Phase 1 trial, participants experienced fewer pain crises, and a Phase 2 trial began in 2024 to expand testing. Additionally, the drug mitapivat has shown potential to reduce red cell sickling and improve hemoglobin levels, with ongoing clinical trials confirming fewer pain episodes in long-term use.
In transfusion care, the SCD–CARRE Trial is studying the effects of monthly red blood cell exchange in adults with sickle cell disease to prevent serious heart and lung complications. This strategy, supported by NHLBI, aims to improve quality of life and reduce hospital admissions. These global updates are vital for informing local strategies in Nigeria as we work toward safer, more effective, and potentially curative treatments for our communities.
ADVANCES IN TREATMENT
Current research on sickle cell disease treatment
Many research studies funded by the NHLBI are exploring gene therapy and blood or bone marrow transplants as powerful, life-changing treatment options for individuals living with sickle cell disease
Accelerating progress toward a cure.The Cure Sickle Cell Initiative (CureSCi) is a collaborative research project led by top scientists working to fast-track the development of gene therapies for sickle cell disease. These treatments involve changing specific genes in a patient’s own blood-forming stem cells so that their red blood cells no longer form the sickle shape. In early trials with the first 10 patients in the Phase 1 CureSCi clinical trial, the therapy proved to be both safe and effective in reducing pain crises. Because of these encouraging results, a larger follow-up study began in 2024.
Making blood transfusions safer and more effective. Blood transfusions remain an important treatment for people with sickle cell disease. NHLBI-funded researchers are currently working on ways to make transfusions safer and more beneficial reducing potential risks while maximizing their health benefits.
Creating better medicines to improve blood health:
Researchers also tested a promising medicine called mitapivat, which helps red blood cells work better. Initial results showed that mitapivat reduced the sickling and breakdown of red blood cells, while safely increasing hemoglobin levels. Further studies with more participants found that those who took mitapivat for a year had fewer pain episodes and stronger blood counts
Evaluating monthly exchange red blood cell transfusions: 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 Sickle Cell Disease and Cardiovascular Risk — Red Cell Exchange (SCD–CARRE) 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.
Improving access to BMTs: The NHLBI collaborates with the National Cancer Institute in funding efforts to improve access to BMT through the BMT Clinical Trials Network external link . 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, one study external link is comparing treatment of severe sickle cell disease with BMTs using cells from either an unrelated immune-matched donor or from a mismatched donor.
Current research on sickle cell trait
People with sickle cell trait carry one gene for sickle hemoglobin (HbS) and one for normal hemoglobin (HbA). While most individuals with the trait don’t show symptoms, ongoing research is exploring potential health risks.
Health Risks and Longevity: A major review, including a study of nearly 48,000 Black soldiers, found that sickle cell trait does not increase the risk of sudden death. However, it may slightly raise the risk of rhabdomyolysis (muscle damage during intense physical activity). Studies also suggest that the sickle cell trait raises the chance of kidney disease and venous thromboembolism.
Blood Clot Risk Studies: An NHLBI clinical trial external link 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.