α-Thalassemia Mutations in Ilam Province, West Iran

Abstract

Despite several studies performed in different provinces of Iran to identify the spectrum of α-globin gene mutations, no such study has so far been carried out in Ilam Province. A total of 274 individuals, including 201 α-thalassemia (α-thal) carriers and 73 normal subjects, originating from the northern counties of Ilam Province, participated in this study. Analysis of α-globin defects was performed using multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system (ARMS)-PCR and direct sequencing, which revealed a total of 11 different mutations and 22 different genotypes. The –α^3.7 (rightward) (NG_000006.1: g.34164_37967del3804), α^−5 ntα (HBA2: c.95 + 2_95 + 6delTGAGG), and –α^4.2 (leftward) deletions were the most prevalent mutations identified in our study, with frequencies of 66.23, 10.09 and 8.33%, respectively. In conclusion, the present study showed that the α-thal mutation spectrum in Ilam Province, at least in the northern part of the province, is different from that in other geographical regions of Iran. These results increase our knowledge about the spectrum and distribution of α-globin gene mutations in Iran.

Keywords:

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

Acknowledgments

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 grant number [#980659] from the Kermanshah University of Medical Sciences, Kermanshah, Iran.