Abstract
A new variant of G6PD associated with chronic nonspherocytic hemolytic anemia (CNSHA) in a Japanese male is described. This variant is unique in that it has a normal electrophoretic mobility, normal Km for glucose-6-phosphate and NADP, and a normal utilization of the substrate 2-deoxyglucose-6-phosphate and deamino-NADP. It also shows a decreased thermal stability and a biphasic pH curve. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Kanazawa.
MeSH terms
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Adult
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Anemia, Hemolytic, Congenital / complications*
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Anemia, Hemolytic, Congenital Nonspherocytic / complications*
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Anemia, Hemolytic, Congenital Nonspherocytic / enzymology
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Anemia, Hemolytic, Congenital Nonspherocytic / genetics
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Glucosephosphate Dehydrogenase / analysis
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Glucosephosphate Dehydrogenase / genetics
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Glucosephosphate Dehydrogenase Deficiency / blood
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Glucosephosphate Dehydrogenase Deficiency / complications*
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Glucosephosphate Dehydrogenase Deficiency / genetics
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Humans
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Hydrogen-Ion Concentration
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Japan
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Male
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Pedigree
Substances
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Glucosephosphate Dehydrogenase