The Spectrum of α-Thalassemia Mutations in Kurdistan Province, West Iran

Abstract

In order to identify the α-thalassemia (α-thal) mutation spectrum in Kurdistan Province, West Iran, a total of 217 individuals, including 154 α-thal carriers and 63 normal subjects were investigated in this study. Molecular analysis of α1- and α2-globin genes using multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system (ARMS)-PCR or direct DNA sequencing, showed 11 different α-globin variants. The –α^3.7 (rightward) deletion (NG_000006.1: g.34164_37967del3804) (70.32%), polyadenylation signal (polyA2) site (AATAAA>AATGAA) (α^polyA2α) (HBA2: c.*92A>G) (7.74%), –α^4.2 (leftward) deletion (6.45%) and codon 59 (or Hb Adana) (G>A) (αα^{codon 59}) (HBA1: c.179G>A) (4.52%) were the most frequent mutations in the present study. In conclusion, the spectrum of α-thal mutations in Kurdistan Province is closest to that in western provinces of Iran (Kurdish and Laki populations). In addition, it was revealed that the codon 59 mutation is common in the Kurdish population. On the other hand, despite the same ethnic background of Kurds in Iran and Iraq, the – –^{MED I} double gene deletion and polyA2 point mutation have different distributions in these two populations. Therefore, further studies are needed to identify the cause of these differences.

Keywords:

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

Acknowledgments

The authors are grateful to the patients and their families for consenting to participate in this study. We especially wish 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 from the Kermanshah University of Medical Sciences by grant number [#980659], Kermanshah, Iran.