Qom University of Medical Sciences Journal

Background and Objectives: Beta thalassemia is the most common autosomal recessive disorder. Up to now, more than 200 mutations have been identified, which affect beta-globin gene function and lead to lack of production or reduction of beta chain. This disease has a relatively high prevalence in Iran. Iran's population is composed of different ethnic groups, thus, determining the frequency and distribution of these mutations is essential in different parts of the country. Knowing the type and frequency of beta-thalassemia mutations in a separate area, could be necessary and useful in the prenatal programs of that area. This study was carried out with the purpose of determining the frequency of IVSII-1mutation of beta globin gene in thalassemia carriers in Qom province.

Methods: In this descriptive cross-sectional study, blood sample was taken from 50 individuals (mean age, 25±5 years) referred to Amir-Al-Momenin Laboratory affiliated to Qom health Center in order to determine the type of anemia in line with the pre-marriage tests that had given the diagnosis of minor thalassemia. In order to the identify and determine the prevalence of the IVSII-1 (G>A) mutation, DNA was extracted from 100 chromosomes from 50 beta thalassemia carriers by a commercial kits and examined using ARMS-PCR. Data were analyzed by t statistical test at the significance level less than 0.05.

Results:IVSII-1(G>A) mutation with a frequency of 10%, was observed in the studied subjects.

Conclusion: Identification of this mutation with the frequency of 10% in Qom province indicates that the population of this region are at the exposure of the IVSII-1(G>A) mediterranean mutation. Therefore, this study can be beneficial in diagnosis programs of beta thalassemia mutations and prenatal screening.