Hemoglobinopathies and Related Disorders

Hemoglobinopathies are inherited disorders caused by mutations in the genes encoding hemoglobin, the oxygen-carrying protein in red blood cells, with sickle-cell disease and thalassemia being the most prevalent and clinically consequential examples worldwide. Defective hemoglobin destabilizes red blood cells, driving chronic hemolysis that can lead to anemia, organ damage, pulmonary hypertension, and early death, while long-term transfusion therapy—though lifesaving—introduces its own complication of iron overload. A major focus of current research is understanding how transcription factors such as BCL11A and GATA1 silence fetal hemoglobin after birth, because reactivating fetal hemoglobin in adult patients can substantially reduce disease severity. Identifying safe, durable ways to manipulate this genetic switch—whether through small molecules, gene therapy, or genome editing—remains one of the field's most active and clinically promising open questions.

Works

130,019

Total citations

1,582,764

Keywords

Sickle-cell DiseaseThalassemiaHemolysisFetal HemoglobinIron OverloadGenetic Regulation