[Importance of the determination of glucose-6-phosphate dehydrogenase in the diagnosis of congenital hemolytic anemias].
In the present paper, the enzyme activity of glucose-6-phosphate dehydrogenase (G-6-PD) was determined in blood haemolysate of 300 children, in the aim of differential diagnosis. In the studied group we found 2 children with markedly low activity of G-6-PD. The activity of enzyme in those patients ranged 0-37 mU/0,1 ml packed red cells. We investigated the activity of enzyme G-6-PD in the blood haemolysate of the parents and other relatives too. On that way we were able to establish that the mode of inheritance of defective enzyme activity was homozygote dominant, e.g. hemizygote recessive, respectively. Our study enabled us to discover the patients with inherited deficiency of erythrocytic G-6-PD in Belgrade.
D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis* / Q000201:enzymology; D002648:Child; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D006801:Humans; D008297:Male
D005954:Glucosephosphate Dehydrogenase
Znacaj odredivanja glukozo-6-fosfat dehidrogenaze u dijagnostici urodenih hemoliznih anemija.