Hereditary Spherocytosis
- Author:
Eun Sil PARK
1
Author Information
- Publication Type:Review
- Keywords: Red blood cell; Hereditary; Spherocytosis
- MeSH: Anemia, Hemolytic; Ankyrins; Cholelithiasis; Erythrocyte Membrane; Erythrocyte Transfusion; Erythrocytes; Membranes; Protein Deficiency; Spectrin; Spherocytes; Spherocytosis, Hereditary; Spleen; Splenectomy
- From:Clinical Pediatric Hematology-Oncology 2012;19(2):57-63
- CountryRepublic of Korea
- Language:Korean
- 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.
