Codon 14 (+T) (<i>HBB</i>: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan

Aliyeva, Gunay; Asadov, Chingiz; Mammadova, Tahira; Musayev, Shirkhan; Abdulalimov, Eldar; Gafarova, Surmaya; Guliyeva, Yegana

doi:10.1080/03630269.2018.1528987

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…IVS‐I‐128 [T > G] – β + mutation of Saudi Arabian origin, previously reported in one patient by Cürük et al., was not detected in our β‐thalassemia cohort (Cürük et al., ). Codon 14 [+T] was specific for the Azerbaijanian population and has not been reported from other populations so far (Aliyeva et al., ). Codons 82/83 [–G], although first reported from Azerbaijan, were then identified in Czechs, Iraqi Kurds, Iranians, and Turks (Al‐Allawi, Jalal, Mohammad, Omer, & Markous, ; Indrak et al., ; Neishabury et al., ; Schwartz et al., ; Ulasli et al., ).…”

Section: Resultsmentioning

confidence: 83%

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations

Aliyeva¹,

Asadov²,

Mammadova³

et al. 2019

Annals of Human Genetics

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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.

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