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KMID : 0387820120190020057
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Clinical Pediatric Hematology-Oncology
2012 Volume.19 No. 2 p.57 ~ p.63
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Hereditary Spherocytosis
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Park Eun-Sil
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Abstract
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Hereditary spherocytosis is a hemolytic anemia caused by erythrocyte membrane defi-ciencies 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 α-spectrin, β-spectrin, ankyrin, band 3 or protein 4.2 protein deficiencies, respectively. The clinical severity ranged from asymptomatic to se-vere 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 analy-sis will make elucidate the genotype-phenotype interactions and can innovate to modify treatment strategies.
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KEYWORD
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Red blood cell, Hereditary, Spherocytosis
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