Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan
Publish place: Avicenna Journal of Medical Biochemistry، Vol: 9، Issue: 1
Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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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.
Keywords:
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