The Spectrum of β-Thalassemia Mutations in Kermanshah Province in West Iran and its Association with Hematological Parameters

Abstract

β-Thalassemia (β-thal) is a hereditary autosomal disorder with decreased or absent β-globin chain synthesis. Two hundred and one unrelated β-thal carriers, attending the Kermanshah Medical Genetics Laboratory, Kermanshah, Iran, were investigated for β-globin gene mutations by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and direct sequencing. Eighteen different mutations were identified in these subjects. Four of the mutations accounted for about 75.0% of the studied cases. IVS-II-1 (G>A) was the most frequent (45.8%) followed by codons 8/9 (+G) (15.9%), IVS-I-110 (G>A) (8.0%), IVS-I-6 (T>C) (5.5%), IVS-I-1 (G>A) (3.5%) and codon 44 (–C) (3.5%); the remaining 12 mutations were present with a frequency less than 3.0%. The mean corpuscular volume (MCV) values for males and females were 63.7 ± 3.7 and 63.2 ± 3.2 fL, respectively, while these values were 19.3 ± 1.6 and 19.3 ± 1.4 pg for mean corpuscular hemoglobin (Hb) (MCH). The mean Hb A₂ values for males and females were 4.4 ± 0.5 and 4.1 ± 0.6%, respectively. This study provides a distribution guide for β-thal mutations in Kermanshah Province, West Iran.

• β-Thalassemia (β-thal)
• Amplification refractory mutation system-polymerase chain reaction (ARMS-PCR)
• Direct sequencing
• β-Globin Mutation
• Kurdish population
• Iran

ACKNOWLEDGMENTS

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

Declaration of Interest

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