With the carrier rate of 4%–8.6%, β‐thalassemia is one of the most prevalent hereditary disorders in Azerbaijan. Taking into consideration the high frequency of β‐thalassemia as well as the occurrences of several other hemoglobinopathies, we conducted a large genotyping study to investigate the mutational background of common hemoglobinopathies in the country. Α‐ and β‐globin genes were evaluated in the carriers of mutations identified via hematological indices and hemoglobin fractions (n = 1,757). Genotyping of β‐thalassemia carriers identified through population screening revealed 32 mutations, with codon 8 [–AA]–34.96%, IVS‐II‐1 [G > A]–16.35%, and IVS‐I‐110 [G > A]–10.12% leading the spectrum. Analysis of associations of β‐thalassemia mutations with geographical regions of the country identified the strongest association between codon 8 [–AA] and Shaki‐Zaqatala, and codon 5 [–CT] in Mountainous Shirvan regions (ri > 6.00; p < 0.05). HbS, HbD‐Punjab, and HbE were the most prevalent among our variant hemoglobin cohort, commonly inherited in compounds with β‐thalassemia than in the homozygous state. We identified nine α‐thalassemia mutations, 20.5 kb and 3.7 kb deletions together accounting for 74% of the spectrum. Point mutations of α‐thalassemia were less common among our observations and were mainly inherited in compounds with deletions. Our results allow a better understanding of the wide spectrum of mutations in Azerbaijan and highlights the high heterogeneity of hemoglobinopathies in the local population.

中文翻译：

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阿塞拜疆人群血红蛋白病突变的分子和地理异质性

β-地中海贫血的携带率为 4%–8.6%，是阿塞拜疆最常见的遗传性疾病之一。考虑到β地贫的高发率以及其他几种血红蛋白病的发生率，我们进行了一项大型基因分型研究，以调查该国常见血红蛋白病的突变背景。在通过血液学指数和血红蛋白分数（n = 1,757）确定的突变携带者中评估了 α 和 β 珠蛋白基因。通过人群筛查确定的 β-地贫携带者的基因分型显示 32 个突变，密码子 8 [–AA]–34.96%、IVS-II-1 [G > A]–16.35% 和 IVS-I-110 [G > A] –10.12% 领先。β-地贫突变与该国地理区域的关联分析发现，在希尔万山区，密码子 8 [–AA] 和 Shaki-Zaqatala 以及密码子 5 [–CT] 之间的关联最强（ri > 6.00；p < 0.05） . HbS、HbD-Punjab 和 HbE 在我们的变异血红蛋白队列中最普遍，通常在 β-地中海贫血的化合物中遗传，而不是纯合状态。我们确定了 9 个 α-地贫突变，20.5 kb 和 3.7 kb 缺失共同占谱的 74%。α-地贫的点突变在我们的观察中不太常见，主要在具有缺失的化合物中遗传。我们的结果可以更好地了解阿塞拜疆的广泛突变，并突出了当地人群血红蛋白病的高度异质性。