Glucose-6-phosphate dehydrogenase deficiency in a native Danish family. A new variant.
Deficiency of red cell glucose-6-phosphate dehydrogenase was found in a native Danish family, in which 2 boys suffered from severe haemolytic anaemia. The mother and 3 sisters of the boys were heterozygotes for G-6-PD deficiency. The biochemical investigations indicate that this deficient G-6-PD is very similar to the Mediterranean variant; however, this variant gene may represent another example of G-6-PD 'Helsinki' or an unique variant with properties similar to G-6-PD B(--).
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003718:Denmark; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000151:congenital / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree