[Detection of female heterozygous glucose-6-phosphate dehydrogenase deficiency].
Diagnostics of heterozygotes are required for population studies, for the detection and consultation of persons with G-6-PD deficiency prone to hemolysis. The diagnostics of heterozygous females with the corresponding trait are problematic in families without hemizygous patients. 1. The determination of the activity is only applicable to the differentiation between heterozygotes and homozygotes if the activities are below the reference range. Heterozygous G-6-PD deficiency with normal activity cannot be identified by this method. 2. Existence of G-6-PD defects is demonstrated by mosaicism even in case of normactivity (Tönztest). 3. Incubation with and without NADP of stroma-free hemolysates involving heat labile enzyme mutants results in a marked decrease of activity within 20 min at 46 degrees C. 4. Electrophoresis on Cellogel demonstrates changes of charge in the mutated enzyme. 5. Family examination verifies suspicion of the heterozygous trait. A combination of parameters is recommended to obtain an improvement in the detection of persons with the heterozygous trait.
D004586:Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D009249:NADP / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D013696:Temperature
D009249:NADP; D005954:Glucosephosphate Dehydrogenase
Die Problematik der Erfassung heterozygoter Glukose-6-phosphat-Dehydrogenase-Mangelträger.