Key Takeaways

Hemoglobin E (HbE) disorders are a group of chronic, hereditary anemias characterized by the presence of ≥ 1 HbE allele, often leading to symptomatic disease.

Patients homozygous for HbE (HbEE, hemoglobin E disease) have clinically mild hemolytic anemia and splenomegaly, whereas those who co-inherit HbE and beta-thalassemia have a highly variable phenotype ranging from nontransfusion-dependent beta-thalassemia to transfusion-dependent beta-thalassemia.

HbE disease and HbE beta-thalassemia are diagnosed by identifying significant quantities of hemoglobin E in a patient’s blood, using isoelectric focusing, hemoglobin electrophoresis, or high-performance liquid chromatography.

Patients with HbAE and HbEE have mild or no symptoms and do not usually require treatment.

Patients with HbE beta-thalassemia are treated similarly to those with other forms of beta-thalassemia.

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