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KMID : 0387820120190010001
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Clinical Pediatric Hematology-Oncology
2012 Volume.19 No. 1 p.1 ~ p.6
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Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia
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Hah Jeong-Ok
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Abstract
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The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be div-ided into three groups: those participating in the glycolytic (E-M) pathway; those in-volved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme defi-ciencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogen-ase and pyrimidine-5’-nucleotidase deficiencies are briefly reviewed. The molecular ge-netics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme defi-ciencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.
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KEYWORD
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Hereditary hemolytic anemia, RBC enzyme deficiency, Pyruvate kinase defi-ciency, G6PD deficiency, Pyrimidine-5’-nucleotidase deficiency
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