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.
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