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

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 ۴۷ 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-۱۶ at a ۹۵% confidence level. Results: In general, ۱۶۴ individuals (۸۱ men and ۸۳ women) suspected of having thalassemia were examined, where ۲۸.۷ % (n=۴۷) of them were identified by PCR-sequencing with βT carriers (۴۸.۸% male and ۵۳.۲% females). Hemoglobin beta (HBβ): c.۲۵۱ del, HBβ: c.۲۷dupG, and HBβ: c.۹۲+۵G>A mutations had the greatest effect on mean corpuscular volume (MCV) reduction, mean corpuscular HB (MCH) reduction, and HbA۲ increment, respectively. The most common mutation in both males and females was the same (HBβ: c.۳۱۵+۱G>A). Conclusion: According to the results, the most common mutations in the diagnosis of βT in Hamadan were serially HBβ: c.۳۱۵+۱G>A mutation and HBβ: c.۲۵-۲۶del, HBβ: c.۱۱۲del, HBβ: c.۲۰A>T, HBβ: ۹۲+۶T>C, and HBβ: c.۳۱۶-۱۰۶C>G.

کلیدواژه ها:

Mutation ، β-Globin ، β-Thalassemia ، Genetics