Hemoglobin E Disease

Hemoglobin (Hb) E is one of the most common hemoglobin worldwide (alongside Hb A and Hb S). It occurs primarily in people of Southeast Asian ancestry (1). Patients who are heterozygous (Hb AE) are asymptomatic, and patients with homozygous Hb E disease usually have mild anemia. Patients heterozygous for Hb E and beta-thalassemia 0 have a hemolytic disease similar to thalassemia intermedia or thalassemia major and usually have splenomegaly.

In patients who are heterozygous (Hb AE), a microcytosis is present without anemia, and target cells can be found on a peripheral blood smear. In patients who are homozygous, a mild microcytic anemia with prominent target cells exists.

Diagnosis of hemoglobin E disease is by hemoglobin electrophoresis.

Most patients do not require treatment. However, patients with severe disease may benefit from periodic transfusions or splenectomy.