G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia

Vox Sang. 1982;43(2):102-4. doi: 10.1111/j.1423-0410.1982.tb00533.x.

Abstract

A glucose-6-phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, a reduced Michaelis constant for glucose-6-phosphate, slightly increased electrophoretic mobility, a biphasic pH activity profile, high 2-deoxyglucose-6-phosphate utilization, normal diamino nicotinamide adenine dinucleotide phosphate utilization and a peak of elution profile after G6PD B. The electrophoretic, kinetic, and chromatographic properties of this erythrocyte G6PD variant allow the conclusion that G6PD Varadero is probably a new variant.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Congenital / blood*
  • Anemia, Hemolytic, Congenital Nonspherocytic / blood*
  • Anemia, Hemolytic, Congenital Nonspherocytic / epidemiology
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics
  • Child, Preschool
  • Cuba
  • Electrophoresis, Starch Gel
  • Glucosephosphate Dehydrogenase / blood*
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency
  • Humans
  • Hydrogen-Ion Concentration
  • Male
  • NADP / blood

Substances

  • NADP
  • Glucosephosphate Dehydrogenase