Prevalence of Ten Common Iranian β-thalassemia Mutations Among β-thalassemia Patients in Kashan Using ARMS-PCR

Abstract

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.