Clin Pediatr Hematol Oncol.  2012 Oct;19(2):57-63.

Hereditary Spherocytosis

Affiliations
  • 1Department of Pediatrics and Health Science Institute, Gyeongsang National University School of Medicine, Jinju, Korea. espark@gnu.ac.kr

Abstract

Hereditary spherocytosis is a hemolytic anemia caused by erythrocyte membrane deficiencies that lead to membrane destabilization and vesiculation. Abnormal spherocytes are trapped and destroyed in the spleen. Mutations in several genes, SPTA1, SPTB, ANK1, SLCA1 and EPB42 cause alpha-spectrin, beta-spectrin, ankyrin, band 3 or protein 4.2 protein deficiencies, respectively. The clinical severity ranged from asymptomatic to severe hemolytic anemia requiring erythrocyte transfusion. Common complications are cholelithiasis, hemolytic episodes and aplastic crises. Till now, splenectomy is considered as only curative method in this genetic disorder. However, in the future, molecular analysis will make elucidate the genotype-phenotype interactions and can innovate to modify treatment strategies.

Keyword

Red blood cell; Hereditary; Spherocytosis

MeSH Terms

Anemia, Hemolytic
Ankyrins
Cholelithiasis
Erythrocyte Membrane
Erythrocyte Transfusion
Erythrocytes
Membranes
Protein Deficiency
Spectrin
Spherocytes
Spherocytosis, Hereditary
Spleen
Splenectomy
Ankyrins
Spectrin
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