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

Acta Haematol. 1982;68(2):131-5. doi: 10.1159/000206964.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / complications*
  • Anemia, Hemolytic, Congenital Nonspherocytic / complications*
  • Anemia, Hemolytic, Congenital Nonspherocytic / enzymology
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics
  • Glucosephosphate Dehydrogenase / analysis
  • Glucosephosphate Dehydrogenase / genetics
  • Glucosephosphate Dehydrogenase Deficiency / blood
  • Glucosephosphate Dehydrogenase Deficiency / complications*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Humans
  • Hydrogen-Ion Concentration
  • Japan
  • Male
  • Pedigree

Substances

  • Glucosephosphate Dehydrogenase