Hereditary elliptocytosis

Hereditary elliptocytosis (HE), also known as hereditary ovalocytosis, is a group of inherited red blood cell membrane disorders characterized by the presence of elliptical (oval-shaped) erythrocytes on peripheral blood smear. The condition results from defects in proteins that form the red blood cell cytoskeleton, most commonly alpha-spectrin (SPTA1), beta-spectrin (SPTB), protein 4.1 (EPB41), or glycophorin C (GYPC). These structural protein abnormalities weaken the mechanical stability of the red blood cell membrane, causing the normally biconcave disc-shaped cells to become elongated and elliptical, particularly when subjected to shear stress in the circulation. The clinical spectrum of hereditary elliptocytosis is highly variable. The majority of affected individuals (approximately 90%) are asymptomatic carriers who are identified incidentally through a routine blood smear showing elliptocytes. However, a subset of patients may experience mild to moderate chronic hemolytic anemia with symptoms including fatigue, jaundice, splenomegaly, and gallstones. In rare cases, particularly in homozygous or compound heterozygous states, severe hemolytic anemia can occur, sometimes presenting in the neonatal period with significant jaundice and anemia requiring transfusion. A related severe variant, hereditary pyropoikilocytosis (HPP), is characterized by marked red cell fragmentation and severe hemolysis, often presenting in infancy. Treatment of hereditary elliptocytosis depends on clinical severity. Most patients require no treatment. For those with clinically significant hemolysis, folic acid supplementation is recommended to support increased red blood cell production. Splenectomy may be considered in patients with moderate to severe hemolytic anemia, as it can reduce the rate of red cell destruction and improve anemia, though it does not correct the underlying membrane defect. Neonatal cases may require phototherapy or exchange transfusion for hyperbilirubinemia. Genetic counseling is recommended for affected families.

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