[Detection of combined forms of hemoglobino- and enzymopathies in newborns].
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.
Askerova
T A
TA
Movsum-zade
K M
KM
Kichibekov
B R
BR
D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000175:diagnosis; D005980:Glutathione Reductase / Q000172:deficiency; D006453:Hemoglobinopathies / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D007525:Isoelectric Focusing; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*
D005980:Glutathione Reductase
Vyiavlenie sochetannykh form gemoglobino- i énzimopatiĭ u novorozhdennykh.