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Hemoglobin E disease: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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Hemoglobin E disease causes mild hemolytic anemia, usually without splenomegaly.
Hemoglobin E is the third most common hemoglobinopathy (after HbA and HbS), and is found predominantly in Negroid and American individuals and people of Southeast Asian descent, while it is rare among Chinese. In heterozygous (HbAE), the disease is asymptomatic. In heterozygous patients with Hb E a and b-thalassemia, hemolysis is more pronounced than in S-thalassemia or in homozygous patients with Hb E; splenomegaly is usually also present.
In the heterozygous form (HbAE), routine laboratory testing does not reveal pathology in the peripheral blood. In the homozygous form, there is a mild microcytic anemia with a predominance of target cells. The diagnosis of HbE is determined by hemoglobin electrophoresis.
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