[THE PHENOTYPIC MANIFESTATIONS OF THALASSEMIC MUTATIONS IN AZERBAIJAN].

The aim of this study was to investigate the phenotypic expression of the most common ß-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 ß-thalassemia and S/ß-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.

[The comparative characteristic of two methods of detection of mutations of beta-globin gene].

Nowadays, two methods of detection of mutations of beta-globin gene are applied: amplification of refractory mutation system and reverse dot-blot-hybridization. The study was implemented to comparatively analyze effectiveness of these methods of molecular diagnostic in detection of thalassemic mutations in Azerbaijan. The examined sample consisted of 82 patients with both homozygous and heterozygous thalassemia and drepanothalassemia as well. In examined patients 146 mutant alleles were detected; 132 were thalassemic ones (16 various mutations) and 14 ranked among hemoglobinosis S (cod6(A>T)). The comparison of effectiveness of mentioned methods made it possible to conclude that both compared methods fit the diagnostic of thalassemic mutations. However the method of inverse dot-blot-hybridization has a number of advantages and is the best choice for Azerbaijan.