Two new glucose-6 phosphate dehydrogenase (G6PD) variants associated with hemolytic anemia: G6PD Amman-1 and G6PD Amman-2.
Two glucose-6-phosphate dehydrogenase (G6PD) variants were investigated. G6PD Amman-1 was partially purified from the red cells of a patient suffering from recurrent jaundice and spontaneous episodic attacks of severe hemolysis in the absence of oxidant drugs, infection, or fava beans. The enzymatic characteristics of G6PD Amman-1 were markedly reduced activity, fast eletrophoretic mobility, slightly increased km for NADP, normal km for G-6-P, normal heat stability, normal utilization of substrate analogues 2-deoxy G-6-P and deamino-NADP, and a monophasic pH curve with a peak at 8.5 to 9.3. The second variant, G6PD Amman-2, was partially purified from the red cells of a patient suffering from recurrent jaundice with episodic mild hemolysis caused by infection or unknown factors. G6PD Amman-2 characteristics were severely reduced activity, slow electrophoretic mobility, normal km for NADP, decreased km for G-6-P, decreased heat stability, increased utilization of substrate analogues, and a monophasic pH curve with a narrow peak at pH 9.5. The red cell level of reduced glutathione was markedly decreased with twofold increase in the activity of glutathione reductase in the patient with G6PD Amman-2.
N S
NS
Karadsheh
A S
AS
Awidi
M S
MS
Tarawneh
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology*; D006801:Humans; D007527:Isoenzymes / Q000097:blood*; D007700:Kinetics; D008297:Male; D009154:Mutation
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase