Hereditary glucose-6-phosphate dehydrogenase deficiency in newborn infants
Askerova, T.A.; Kichibekov, B.R.; Movsum-zade, K.M.
Pediatriia 2: 10-13
1992
ISSN/ISBN: 0031-403X PMID: 1387470 Document Number: 403757
Early diagnosis of the deficiency of glucose 6-phosphate dehydrogenase was made in examining 428 samples of funic blood from 230 boys and 198 girls. The normal level of the enzyme activity was established in red blood cells of the healthy newborn with regard to the national and sexual differences. The hereditary character of the deficiency of glucose 6-phosphate dehydrogenase was supported in 37 neonates by analyzing the pedigrees. The enzyme deficiency was associated with different forms of hemoglobinopathies: alpha- and beta-thalassemia, structurally abnormal hemoglobin S and methemoglobinemia. The considerable prevalence of the deficiency of glucose 6-phosphate dehydrogenase was revealed in Azerbaijan for the first time. The phenotypic frequency amounted to 8.64% whereas the gene one to 0.0623.