Online ISSN 2313-1519
Print    ISSN 1812-2892
Abstract - History of the study and solution to the problem of β-thalassemia in Azerbaijan
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Gunay Akbarova

This article is devoted to the study of β-thalassemia, which is one of the most widespread hereditary diseases among the population of the Azerbaijan Republic. The pathology's genetic mechanism, clinical and laboratory manifestations are described. A complete analysis of references in this field since 60s was completed. The causes of this disease and methods of detecting the pathology in Azerbaijan are examined. Research of the β-thalassemia in Azerbaijan was carried out in 40 of the 66 administrative districts of the Republic. The article reviews the main types of β-thalassemia mutations found in Azerbaijan. The most characteristic mutations for the population are β0 - Fs codon 8 (-AA), β0 - IVS-II-1 (G>A), β+ - IVS-I-110 (G>A) and β+ - IVS-I-6 (T>C). The rarest mutations are codon 5 (-CT), -88 (C>A), β+-IVS-I-130 (G>C) and β0-codon 37 (TGG>TGA). The mutation frequencies are listed by administrative districts in Azerbaijan. The possibilities of β-thalassemia manifestation together with abnormal forms of hemoglobin in the Azerbaijan population are traced. The methods of treating, exploring and prevention of β-thalassemia by the general public, charitable organizations, foreign companies and the government of the Azerbaijan Republic are illustrated. Basic prevention methods and the importance of establishing a State register of β-thalassemia cases are reviewed.

Volume 4, Number 30 (2013)