Study of Beta-Globin Chain Mutations in Patients with Beta Thalassemia Trait among Different Racial Groups in Khouzestan Province

Thalassemia is the most common hereditary anemia. In most cases، it affects genes of alpha and beta globin chains and leads to the reduction of affected chains. About 5% of the world population has one genetic variant in their globin genes، but only 1. 7% of them exhibit alpha and beta thalassemia minor. Recognition of frequent mutations in beta thalassemia minor will be helpful in devising preventive measures and therapeutic programs among carriers of special genotypes. In this descriptive and cross sectional study، data was obtained from patients admitted to the Genetic Laboratory of Shefa Hospital for the diagnosis of thalassemia in 2010. The total number of the patients diagnosed with thalassemia minor was 707. ARMS-PCR was used to diagnose point mutations and RFLP was done to detect deletions in beta globin genes. The data was analyzed with SPSS version 14. Based on race، our beta thalassemic minor patients were Arab (358 cases)، Bakhtiari (n = 164)، Fars (77 cases)، Kurd (20 people)، and Lur (88 cases). Out of 39 identified mutations and deletions، the most prevalent mutations were Cd 36/37 (- T) with 156 carriers، IVSII-1 (G> A) with 129 carriers، and IVSI-110 (G> A) with 66 carriers. Based on race، the most frequent mutation seen in Arab and Bakhtiari populations was Cd 36/37 (- T) [66 and 71 cases respectively]. In Fars، Kurd and Lur populations، the most frequent mutation was IVSII-1 (G> A) [17، 8 and 28 cases، respectively]. The prevalence of mutations causing beta-thalassemia in Khuzestan Province is very diverse، but shows close similarities in some races due to genetic similarities in the whole population. Considering the increasing trend of communication among different races، our findings are highly applicable in prediction of mutations as well as in screening and pre natal diagnosis.