Hemoglobinopathies and Related Disorders

Hemoglobinopathies are inherited disorders of hemoglobin structure or production, with sickle-cell disease and thalassemia being the most prevalent and consequential examples, together affecting millions of people worldwide. Mutations in the genes encoding the globin chains alter how red blood cells carry oxygen, triggering cascading problems that include chronic hemolysis, iron overload from repeated transfusions, and life-threatening complications such as pulmonary hypertension. A central area of active research is understanding how transcription factors like BCL11A and GATA1 regulate the switch from fetal to adult hemoglobin, since reactivating fetal hemoglobin in adult patients can substantially reduce disease severity. Open questions include how to optimize gene-based therapies that target this switch, and how to better predict and manage the wide variation in clinical outcomes among individuals who carry the same mutations.

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Keywords

Sickle-cell DiseaseThalassemiaHemolysisFetal HemoglobinIron OverloadGenetic Regulation