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

Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
View: 126

This Paper With 5 Page And PDF Format Ready To Download

  • Certificate
  • من نویسنده این مقاله هستم

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این Paper:

شناسه ملی سند علمی:

JR_MEBIO-9-1_006

تاریخ نمایه سازی: 30 مرداد 1401

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 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.

Authors

Fatemeh Ramezani

School of Medical Sciences, Hamadan University of Medical Sciences, Hamadan, Iran

Fatemeh Bahreini

Research Center for Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran

Hossein Ranjbar

Department of Internal Medicine, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran

Ali Reza Soltanian

Modeling of Noncommunicable Diseases Research Center, Hamadan University of Medical Sciences, Hamadan, Iran