ABSTRACT
More than 1500 umbilical blood samples from newborns were examined by modified analytical isoelectric focussing method on polyacrylamide-ampholine gels at Ph3.5-9.5 and 5.5-8.5 with Multiphor-2117. Hemoglobin fractions were measured by laser densitometer 22P2 (LKB, Sweden). Methemoglobinemia type was identified by methemoglobin content, methemoglobin reductase activity, Betke's coefficient, and by analyzing the spectra of blood hemolysates containing group M hemoglobin. Methemoglobinemia due to low methemoglobin reductase activity was detected in one child. Increased levels of methemoglobin were detected in his father, mother, grandmother, and grandfather. Methemoglobin reductase activity was not detected in the proband, his mother and grandfather. Zero methemoglobin reductase activity in the proband was combined with zero glucose-6-phosphate dehydrogenase activity. Grandmother was found to be a heterozygotic carrier of these enzymes genes. Glutathione reductase activity was found reduced below the norm in all the members of this family.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/genetics , Methemoglobinemia/genetics , Adult , Densitometry , Female , Fetal Blood/chemistry , Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glutathione Reductase/deficiency , Heterozygote , Humans , Infant , Infant, Newborn , Isoelectric Focusing , Male , Methemoglobin/analysis , Methemoglobinemia/complications , Methemoglobinemia/diagnosis , Middle Aged , PedigreeABSTRACT
In order to develop a rational and early detection of combined forms of hemoglobin and enzymopathies, 1500 samples of neonatal cord blood were tested for alpha- and beta-thalassemia, of abnormal hemoglobins S and C, of methemoglobinemia and for hereditary persistence of fetal hemoglobin as well as 428 samples were examined for glucose-6-phosphate dehydrogenase (EC 1.1.1.49) and glutathione reductase (EC 1.6.4.2) deficiencies. For this purpose, isoelectrofocusing in Multiphor-2117 polyacrylamide-ampholine plates (LKB, Sweden) at pN 3.5-9.5 and pH 5.5-8.5 was carried out with subsequent laser densitometry of gels (Densitometer 2202, LKB). The data obtained were analyzed simultaneously in biochemical, hematological and genealogical studies. Hereditary impairments detected were evidenced by genealogical analysis.
Subject(s)
Hemoglobinopathies/diagnosis , Infant, Newborn, Diseases/diagnosis , Metabolism, Inborn Errors/diagnosis , Female , Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glutathione Reductase/deficiency , Hemoglobinopathies/complications , Humans , Infant, Newborn , Isoelectric Focusing , Male , Metabolism, Inborn Errors/complicationsABSTRACT
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.
