hemoglobin E-thalassemia

Hemoglobin E-thalassemia is a blood disorder characterized by a deficiency in hemoglobin, the protein responsible for oxygen transport in red blood cells. This condition arises from genetic defects affecting the synthesis of globin chains, which are components of hemoglobin.1

In thalassemia, the body produces reduced amounts of specific globin chains, leading to an imbalance. This imbalance results in ineffective red blood cell production, insufficient hemoglobin, and the destruction of red blood cells. Hemoglobin E is a variant hemoglobin that, when inherited alongside thalassemia, can create a severe form of the disease that closely resembles thalassemia major. This combination can lead to significant anemia, an enlarged spleen, and bone deformities.213