title: Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in one of the regions of Azerbaijan: mass screening and laboratory investigations.
abstract: Mass screening in the Geok-chai region of Azerbaijan covered 264 persons. 2 families with abnormal hemoglbin were detected. Electrophoresis in PAG and on cellulose acetate films as well as sickling test showed that in 3 out of 9 members of one of the families HbS was detected. 6 out of 8 members of the others family appeared to be HbD-carriers. In 4 members of this family abnormal hemoglobin was found out in combination with G-6-PDH deficiency. No clinical manifestations were found. A number of beta-thalassemia cases were detected in screened children as well as in adults. Hemoglobin oxygen equilibrium curves were studied in patients with heterozygous beta-thalassemia. In case of G-6-PDH deficiency when it is not possible to obtain active enzyme zones on the columns with PAG these zones can be detected when CoCl2 (2 mM) is added into the incubation medium.
mesh_terms: D000293:Adolescent; D000328:Adult; D001382:Azerbaijan; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005319:Fetal Hemoglobin; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology*; D006441:Hemoglobin A; D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D006801:Humans; D008297:Male; D008403:Mass Screening; D010375:Pedigree; D013789:Thalassemia / Q000453:epidemiology*
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D006441:Hemoglobin A; D005319:Fetal Hemoglobin; D005954:Glucosephosphate Dehydrogenase