The Sickle Cell Branch conducts research to understand sickle cell disease and identify markers of disease severity. Specific projects aim to better predict long-term outcomes and to develop therapies through genetics and genomics. Researchers in this Branch also study how genes influence disease symptoms such as pain and vascular complications; and new approaches for better outcome in bone marrow transplant and gene therapy. The Branch is a leader in the Department of Health and Human Services (HHS) sickle cell program, which fosters government-wide collaboration to rapidly move basic discoveries to treatments for patients. This basic research helps fuel scientific discovery that may one day help advance research related to heart, lung, blood, and sleep conditions or other fields.
Research in the Laboratory of Sickle Cell Genetics and Pathophysiology, led by Dr. Swee Lay Thein, examines the genetic factors underlying the phenotypic variability of sickle cell disease and beta thalassemia disorders. Both conditions are caused by mutations affecting the beta globin gene. A crucial difference between these conditions is that beta thalassemia results from a reduced number of red blood cells, while sickle cell disease results from abnormal sickle hemoglobin, or HbS, that makes red blood cells rigid and sickle-shaped, causing acute intermittent pain due to blockages of blood vessels and interruption of oxygen supply to vital organs. The rigid red blood cells are also very fragile and easily destroyed, causing a life-long anemia.
The Laboratory of Sickle Thrombosis and Vascular Biology, led by Dr. Arun Shet, studies the contribution of inflammation and coagulation to the vascular pathobiology of sickle cell disease. Using trans-disciplinary approaches that involve epidemiology, translational medicine, and novel drug therapeutics, Dr. Shet and his team study how the pro inflammatory milieu of sickle cell disease regulates coagulation proteins and promotes thrombotic vasculopathy. The group also conducts clinical trials to evaluate novel agents that reduce thrombosis risk in sickle cell disease.