Mutation frequency of -Globin Gene amon -thalassemia major patients referred to the Shafa hospital of Ahvaz

-thalassemia is characterized by reduced synthesis of the hemoglobin chain. Nowadays, more than 200 disease-causing mutations in globin gene have been identified. thalassemia is the commonest monogenic diseases worldwide and the most common hereditary disorder in Iran. Since the gene frequency of thalassemia is high and varies considerably in each region and due to multiethnic population in Khozestan province of Iran, it is expected that a vast spectrum of thalassemia mutations may be present in this region. Therefore it is necessary to determine the frequency and distribution of thalassemia mutations in different areas of the country. After collection of information and samples of 202 thalassemia major patients, genomic DNA from blood was extracted and after amplification of globin gene by specific primers, full length sequencing of globin gene was done by DNA sequencing. Twenty nine gene mutations were found in 404 studied alleles. Our results show that IVSII-1 (G>A) with a frequency of 21. 3% (86) represented the most common mutation. The descending frequency of other four mutations were: IVSI-110 (G>A) (17. 8%), CD36/37 (-T) (16%), IVSI-5 (G>C) (6. 9 %) and CD5 (-CT) (5. 2%د). Our findings indicate that the Khuzestan population has a wide variety of -thalassemia allelic distribution. These results can be used as a basis of prenatal diagnosis of thalassemia