Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques

Beta Thalassemia has been reported to be a common genetic disorder in Iran. To establish the molecular spectrum of the beta thalassemias in the Kermanshah Province of Iran, 185 unrelated beta thalassemia patients with Kurdish ethnic background were studied (181 β-thalassemia major and 4 β-thalassemia intermedia). Using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), restriction fragment length polymorphism (RFLP) and direct genomic sequencing twenty different mutations were identified accounting for 98.1% of the alleles. Approximately 80.8% of β-thalassemia chromosomes had β⁰ mutation. The most prevalent mutation was the IVSII-1 (G→A) (32.97%), followed by CD8/9 +G (13.51%), IVSI-110 (C→T) (8.38%), CD 36/37 −T (7.84%), CD8 −AA (5.94%), CD15 (G→A) (4.86%) and IVSI-1 (G→A) (4.59%). All of these mutations accounted for 78.1% of the alleles. The results described here will be of valuable help in the development of successful prevention programs for the population of Kermanshah.