title: Gd(--) Abrami: a deficient G-6PD variant with hemizygous expression in blood cells of a woman with primary myelofibrosis.
abstract: A new deficient G-6PD variant, Gd(--) Abrami, was found in granulocytes, platelets and red blood cells of a 65-year-old woman with myelofibrosis. Enzyme and immunological titrations showed that only the deficient variant was present in blood cells whereas both the normal and abnormal enzymes were found in the fat cells of this patient. These results seem to indicate that the granulocytes, platelets and erythrocytes of this woman with myelofibrosis have arisen from a single abnormal precursor the functional X chromosome of which is the one carrying the abnormal G-6PD gene.
mesh_terms: D000273:Adipose Tissue / Q000201:enzymology; D000368:Aged; D001792:Blood Platelets / Q000201:enzymology; D002999:Clone Cells / Q000201:enzymology; D004789:Enzyme Activation; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005955:Glucosephosphate Dehydrogenase Deficiency; D006098:Granulocytes / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D008297:Male; D009249:NADP / Q000378:metabolism; D055728:Primary Myelofibrosis / Q000201:enzymology* / Q000235:genetics; D012730:Sex Chromosomes
chemical_list: D009249:NADP; D005954:Glucosephosphate Dehydrogenase