Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan

Abstract

Background: β-Thalassemia (βT) is one of the most common genetic diseases. The specific mutation profile of that region can be identified by determining the specific mutations of each region and ethnicity. Objectives: This study investigated the β-globin mutations in patients with βT in Hamadan. Methods: This cross-sectional study was performed on 47 βT carriers. In the present study, the polymerase chain reaction (PCR)-sequencing technique was used to confirm βT carriers, and data were analyzed with SPSS-16 at a 95% confidence level. Results: In general, 164 individuals (81 men and 83 women) suspected of having thalassemia were examined, where 28.7 % (n=47) of them were identified by PCR-sequencing with βT carriers (48.8% male and 53.2% females). Hemoglobin beta (HBβ): c.251 del, HBβ: c.27dupG, and HBβ: c.92+5G>A mutations had the greatest effect on mean corpuscular volume (MCV) reduction, mean corpuscular HB (MCH) reduction, and HbA2 increment, respectively. The most common mutation in both males and females was the same (HBβ: c.315+1G>A). Conclusion: According to the results, the most common mutations in the diagnosis of βT in Hamadan were serially HBβ: c.315+1G>A mutation and HBβ: c.25-26del, HBβ: c.112del, HBβ: c.20A>T, HBβ: 92+6T>C, and HBβ: c.316-106C>G.

Keywords

• mutation
• beta-globin
• beta-thalassemia
• genetics