thalassemia major

Thalassemia major, also known as Cooley anemia, is a severe form of thalassemia, a group of blood disorders characterized by a deficiency in hemoglobin, the protein responsible for oxygen transport in the blood. This condition arises from genetically determined defects in the synthesis of the polypeptide chains that make up hemoglobin.12

In thalassemia major, the body produces insufficient amounts of functional hemoglobin, leading to severe anemia. This results in the bone marrow working overtime to produce red blood cells, causing expansion and deformities of the bones. Other common symptoms include an enlarged spleen and liver, stunted growth, and iron overload from frequent blood transfusions. While a new gene-editing therapy, Casgevy, was approved in 2023, traditional treatments involve blood transfusions and, in some cases, spleen removal.1