Frequency of beta-globin gene mutations in Thalassemia carriers referred to Varamin and Pakdasht healthcare networks

Thalassemia is a genetic disorder of autosomal recessive and has high prevalence in Iran. This study was therefore designed to identify the types of mutations in Beta-Thalassemia.
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.
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.
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.