RESUMEN
Beta-thalassemia is the most common autosomal recessive disorder. More than 200 different mutations in the beta-globin gene have been detected which can lead to decreased or absent beta-globin chain synthesis. Since the Iranian Population is a mixture of different ethnic groups, it is necessary to determine the frequency and distribution of these mutations in the different ethnic groups of our county. Therefore, in this study we determined the Spectrum and the frequency of beta-thalassemia mutations in the patients with beta-thalassemia major in the Kurd population of Kurdistan and West Azerbaijan provinces of Iran. To detect mutations, extracted DNA of 110 chromosomes from 55 unrelated patients, were studied by PCR-ARMS [Polymerase Chain Reaction-Amplification Refractory Mutation System] SSCP [Single Strand Conformation Polymorphism] and direct sequencing methods. The results of this study showed that IVS-II-1 [G-A] was the most common mutation with a frequency of 31%; FSC 8/9[+G] with a frequency of 19% was the second most prevalent mutation among all chromosomes. Other mutations were IVS-I-1[G-A] FSC8 [-AA] IVS-I-110[G-A] FSC36/37[-T] IVS-I-5[G-C], IVS-I-128[T-G] FSC44 [-C], FSC 5[-CT] and +22UTR [G-A] These mutations comprised 79% of beta-thalassemia mutations in this region and 21% of the mutations still remains to be explored. The results of this study showed that, there are similarities and differences between this region and other parts of Iran and also neighboring countries. Therefore, determination of beta-thalassemia mutations in this region seems to be necessary and beneficial for designing prenatal diagnosis programs