SOME HEREDITARY DISEASES PREVALENT IN THE REPUBLIC OF AZERBAIJAN

This article presents the results of a study conducted to investigate the prevalence of certain hereditary diseases-hereditary hemochromatosis, hereditary collagenopathies, and hemoglobin-enzymopathies-among the population of the Republic of Azerbaijan. A total of 2,881 individuals of Azerbaijani ethnicity, differing in age and sex, were examined. The phenotypic frequencies of the investigated hereditary diseases were determined. The phenotypic prevalence of hereditary hemochromatosis among the population of the Republic of Azerbaijan was 12.3%, with a gene frequency of 0.1865. The highest phenotypic prevalence was observed among adults (21.2%), the lowest among newborns (6.7%), while among children it was 9.0%. The prevalence of hereditary collagenopathies was highest in the southern regions (12.2%) and lowest among migrants and isolated populations (1.1%). The prevalence of hemoglobin-enzymopathies were 14.3%, with the highest frequency observed in homozygous β-thalassemia (51.9%). Thus, the conducted studies allowed us to genetically characterize the population of Azerbaijan.