Hemoglobinopathies and Related Disorders

Hemoglobinopathies are inherited disorders of hemoglobin structure or production, most prominently sickle-cell disease and the thalassemias, which together affect millions of people worldwide and represent a major global burden of chronic illness. At their core, these conditions disrupt the normal lifespan and function of red blood cells, leading to consequences ranging from painful hemolytic crises and anemia to iron overload from repeated transfusions and life-threatening complications such as pulmonary hypertension. Researchers are actively working to understand the genetic switches — including transcription factors like BCL11A and GATA1 — that silence fetal hemoglobin after birth, since reactivating it can substantially reduce disease severity in both sickle-cell disease and thalassemia. How to translate that biological insight into safe, durable, and broadly accessible therapies, whether through gene editing, pharmacological induction, or improved transfusion strategies, remains one of the central open questions driving the field.

Works

128,148

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1,564,329

Keywords

Sickle-cell DiseaseThalassemiaHemolysisFetal HemoglobinIron OverloadGenetic Regulation