Elliptocytosis is inherited

Elliptocytosis is inherited

Inherited elliptocytosis is a relatively rare hereditary anomaly of hematopoiesis, in which 50-90% of erythrocytes are represented by elliptocytes, often with concomitant hemolytic anemia.

Genetic Aspects

    • Mutations of several genes lead to the disease: erythrocyte protein 4.1 (* 130500.1p36.2-p34, EPB41 gene, R), a-spectrin (182860, 1q21, SPTA gene, R), .2, SPTB gene, R), erythrocyte protein 3 (* 109270, pallidin, 17q21-q22, BND3 gene, R); also known atypical form (#225450, p)
    • Elliptocytosis is also included in the clinical picture of hereditary pyropoykylocytosis (#266140, p) caused by mutations in the genes of erythrocyte protein 4.1 (130500) and a-spectrin (182860). Clinically: pyropoykylocytosis, hemolytic anemia, microspherocytosis, poikilocytosis, elliptocytosis.

clinical picture. Only 10-15% of patients have chronic non-political anemia (reduced osmotic resistance of erythrocytes). Newborns may develop jaundice; peripheral blood smears show malformed and fragmented red blood cells, as well as characteristic ovoid cells (elliptocytes). Gradually elliptocytosis progresses. Treatment. With asymptomatic course, there will be no need for treatment. Shown splenectomy after reaching 6 years of age.

Synonym. Ovalocytosis is inherited

See also Anemia, Hemolytic Anemia, Deficiency


ICD. D58.1 Hereditary elliptocytosis

MIM. Elliptocytosis hereditary (130500, 182860, 182870, 109270, 225450) Literature. Conboy JG: Structure, function, and molecular genetics

of erythroid membrane skeletal protein 4.1 in normal and abnormal red

blood cells. Seminars Hemat. 30:58-73, 1993

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