title: [THE PHENOTYPIC MANIFESTATIONS OF THALASSEMIC MUTATIONS IN AZERBAIJAN].
abstract: The aim of this study was to investigate the phenotypic expression of the most common β-globin gene mutations - Codon 8 (-AA), IVS 1.6 and IVS 2.1 in heterozygous, homozygous and compound with HbS in Azerbaijan. In total, 137 homozygous and heterozygous β-thalassemia and S/β-thalassemia individuals were included to the study. Red blood cell count, hemoglobin, hematocrit and erythrocyte indices were studied. Furthermore, hemoglobin fractions were analyzed by electrophoresis on cellulose acetate films and high performance liquid chromatography. Thalassemic mutation were detected using reverse hybridization method via commercial kits. Increased red blood cell count, decreased erythrocyte indices and high HbA2 was observed in heterozygous individuals causing thalassemia minor. The results obtained during the screening of mutations and analysis of hematological parameters clearly showed that the phenotypic expression of homozygous mutations, on the other hand, varies between different mutations.
authors.affiliation: Institute of Hematology and Transfusiology, Baku, Azerbaijan.
authors.forename: Ch
authors.initials: C
authors.lastname: Asadov
authors.affiliation: Institute of Hematology and Transfusiology, Baku, Azerbaijan.
authors.forename: T
authors.initials: T
authors.lastname: Mammadova
authors.affiliation: Institute of Hematology and Transfusiology, Baku, Azerbaijan.
authors.forename: E
authors.initials: E
authors.lastname: Abdulalimov
authors.affiliation: Institute of Hematology and Transfusiology, Baku, Azerbaijan.
authors.forename: S
authors.initials: S
authors.lastname: Gafarova
authors.affiliation: Institute of Hematology and Transfusiology, Baku, Azerbaijan.
authors.forename: G
authors.initials: G
authors.lastname: Aliyeva
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004906:Erythrocyte Count; D004909:Erythrocyte Indices; D005260:Female; D006400:Hematocrit; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D055544:beta-Globins