Red cell glucose-6-phosphate dehydrogenase deficiency in Finland. Characterization of a new variant with severe enzyme deficiency

Scand J Haematol. 1975 Sep;15(2):145-52. doi: 10.1111/j.1600-0609.1975.tb01066.x.

Abstract

Severe red cell glucose-6-phosphate dehydrogenase (G-6-PD) deficiency has been found in an 'aboriginal' Finnish family. 2 male and 9 female carriers of the variant G-6-PD were studied. The genetic pattern is consistent with x-linked recessive inheritance and the defect is associated with drug (primaquine) induced haemolysis. This was demonstrated by enzyme deficient red cell (51Cr-labelled) survival studies on a normal volunteer recipient. In addition, one of the hemizygotes studied had a slight chronic nonspherocytic haemolytic disorder. The partially purified enzyme had many of the characteristics of G-6-PD Mediterranean. The occurrence of this G-6-PD Mediterranean type variant in the Finnish population, which differs greatly from Mediterranean ethnic groups, as well as the association of slight chronic haemolysis with severe G-6-PD deficiency is discussed.

MeSH terms

  • Erythrocyte Aging / drug effects
  • Erythrocytes / drug effects
  • Female
  • Finland
  • Genes, Recessive
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Male
  • Pedigree
  • Primaquine / pharmacology
  • Sex Chromosomes

Substances

  • Primaquine