Key Takeaways

✅ Hemoglobin E (HbE) disorders are a group of chronic, hereditary anemias characterized by the presence of ≥ 1 HbE allele.

✅ 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.