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G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

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.
AuthorsT Kitao, K Ito, K Hattori, T Matsuki, Y Yoneyama
JournalActa haematologica (Acta Haematol) Vol. 68 Issue 2 Pg. 131-5 ( 1982) ISSN: 0001-5792 [Print] Switzerland
PMID6812368 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glucosephosphate Dehydrogenase
Topics
  • Adult
  • Anemia, Hemolytic, Congenital (complications)
  • Anemia, Hemolytic, Congenital Nonspherocytic (complications, enzymology, genetics)
  • Glucosephosphate Dehydrogenase (analysis, genetics)
  • Glucosephosphate Dehydrogenase Deficiency (blood, complications, genetics)
  • Humans
  • Hydrogen-Ion Concentration
  • Japan
  • Male
  • Pedigree

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