The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran

Abstract

α-Thalassemia (α-thal) is one of the most common genetic disorders worldwide. The aim of this study was to investigate for the first time the α-thal mutation spectrum in the Lak population living in Lorestan Province, Iran. One hundred and seventy-six α-thal carriers participated in the study. Multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system (ARMS)-PCR and direct sequencing were used for the detection of different mutations on the α-globin (HBA1 and HBA2) genes. A total of 11 different mutations was identified. The –α^3.7 (rightward; NG_000006.1: g.34164_37967del3804) deletion was observed most frequently (56.35%), followed by α^−5 ntα (HBA2: c.95+2_95+6delTGAGG), α^polyA2α (HBA2: c.*92A>G) and – –^{MED I} (NG_000006.1: g.24664_41064del16401), with frequencies of 15.47, 9.39, and 6.08%, respectively. These four mutations accounted for more than 87.0% of the total mutated alleles. Moreover, 19 different genotypes were identified. The types and distribution pattern of the mutations identified in this study, in comparison with other studies conducted in Iran, was most similar to the Kurdish population of Kermanshah Province, Iran. Due to the lack of information on α-thal in Lorestan Province, it was not possible to compare the mutation spectrum in the Lur and Lak populations. In conclusion, our results may help in setting up a strategy for an α-thal screening program and genetic counseling in the Lak people.

KEYWORDS:

• α-Thalassemia (α-thal)
• gene
• Iran
• mutation

Acknowledgements

The authors are grateful to the patients and their families for consenting to participate in this study. We especially want to thank all the people at the Medical Genetics Laboratory, Kermanshah University of Medical Sciences, Kermanshah, Iran for their great kindness and collaboration.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by a grant [#97066] from the Kermanshah University of Medical Sciences, Kermansha, Iran.