prevalence of ten common iranian β-thalassemia mutations among β-thalassemia patients in kashan using arms-pcr

Thalassemia is a prevalent inherited hematological disorder that affects erythrocyte production. this chronic condition is caused by mutations in the globin gene, resulting in either a reduction or complete absence of one of the two globin chains- alpha or beta. the β-thalassemia is an inherited hematological disorder with an autosomal recessive pattern. in iran, this disease can be caused by at least 47 different mutations in the β-globin gene, with approximately 10 common mutations accounting for over 80% of β-thalassemia cases. this study aimed to identify the spectrum of common β-thalassemia mutations among β-thalassemia patients in kashan, located in central iran. in present study 40 β-thalassemia patients (major and intermedia) were analyzed. dna was extracted from whole blood samples utilizing the salting-out method. screening for causal mutations was conducted using the amplification refractory mutation system pcr (arms-pcr) technique. among the 10 common mutations, ivs ii-i was the predominant mutation (30%), followed by fr 36-37 (20%), fr 8-9 (15%), ivs i-110 (12.5%), codon 8 (10%), ivs i-6 (7.5%), and ivs i-5 (5%). the mutations ivs i 3´end (-25 del), codon 44, and codon 39 were not detected in this study. the findings indicate that the kashan population exhibits a diverse range of thalassemia allelic distributions. ivs ii-i and fr 36-37 were identified as the most prevalent mutations. these results are consistent with findings from other regions in central iran and can serve as a foundation for β-thalassemia screening and prenatal diagnosis programs.