Hemoglobinopathies

Given that the symptom severity of sickle cell disease (SCD) and β-thalassemia can be reduced by increased production of fetal hemoglobin (HbF), researchers are interested in uncovering the mechanisms by which HbF is silenced by the protein coding gene BCL11A. Researchers from Harvard and MIT performed functional studies on BCL11A variants "to uncover specific liabilities for BCL11A's function in HbF silencing," noting that their analysis of missense variants "suggests potential therapeutic avenues for HbF induction to treat sickle cell disease and β-thalassemia."