Frequency of beta-globin gene mutations in Thalassemia carriers referred to Varamin and Pakdasht healthcare networks
16 January 2017
Background: Thalassemia is a genetic disorder of autosomal recessive and has high prevalence in Iran. This studywas therefore designed to identify the types of mutations in Beta-Thalassemia.
Materials and Methods: The present descriptive study was aimed to investigate the frequency of mutations in beta-globin gene in carriers referred to a health care network. The study was carried out in Pakdasht and Varamin from 1997 to 2013. Ethical issues such as confidentiality of studied community were all considered.
Results: The current study found that from a total of 26 mutations, IVSII-1 was the most frequent mutation (24.5%) followed by IVSI-5 mutation with a frequency of 14.4 percent. Furthermore, there was only limited evidence for an increased frequency of IVSI-25bpdel/N, c22/n, IVSII-848, and fr-36-37/N mutations and each with a frequency of 0.6 percent revealed the lowest frequency.
Conclusion: In accordance with the results of recent studies in the Iranian population, IVSII-1assigned the most common mutation in our study. This combination of findings has important implications for developing a guide for faster access to the type of mutation in patients suffering from Thalassemia.
Keywords: Beta-Thalassemia, beta globin gene, blood factors, mutations, Iran