Mutation frequency of β-Globin Gene among β-thalassemia major and intermediate patients referred to the Shafa hospital of Ahvaz in years of 2011_2015

Document Type : Original Article


1 Health research institute, thalassemia &Hemoglobinopathy Research Center,Ahvaz jundishapur university of Medical Sciences, Ahvaz, Iran

2 Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran

3 Student Research Committee Ahvaz jundishapur University of Medical Sciences, Ahvaz , Ir Iiran

4 Department of Cell and Molecular Biology, School of Biology, College of Science, University of Tehran, Tehran 1417614411, Iran


Objective: beta-thalassemias are monogenic disorders characterized by defective synthesis of the b-globin chain. There are expected to be a wide range of mutations in Iran, so this high incidence was estimated with consideration of the variations between ethnic populations and the geographical location of the populations in this country.
Materials and Methods: We studied the frequency of β-thalassemic mutations in all patients with β-thalassemia major in patients with β-Thalassemia major referring to Ahvaz's Shafa Hospital from 1390 to 1395.
Results: The mutations in 1608 alleles were detected by studying the genetic records of 804 patients referring to the Ahvaz healing hospital. The IVSII-1 mutation with 17.72% frequency was the most common mutation in this study. CD36- 37 with 16.29%, IVSI-110 mutations with 11.1%, CD6 mutation with 11.19%, and CD8 mutation with 9.95% were the most commonly occurring mutations, respectively.
Conclusion: The findings of this study indicate that β-thalassemia mutations in the population of Khuzestan province are wide-spread and distributed, and the success in pre-natal diagnosis of disease, in the presence of sufficient information from the common mutations of the disease. Prevention of beta-thalassemia requires a complete examination of different molecular mutations in different populations, especially with a high prevalence.


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