The Spectrum of β -thalassemia Mutations in Isfahan Prov ince of Iran

β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta glo bin genes. The aim of the present study was to identify the distribution and frequency of the most com mon β-thalassemia mu tations among the population of Isfahan Province in central Iran. The data presented here were derived from a total of 114 β-thalassemia chromosomes of 18 affected pa tients and 78 unrelated carriers identified in our screening program. Furthermore, 23 pregnant women were analyzed among couples with a PND request for β-thalassemia. Allele identification was carried out using routine Reverse Dot Blot, ARMS, and ge nomic sequencing. The most common mutation, IVS-II-I, followed by FSC-36-37, IVS-I-5, FSC-8-9, IVS-I-110, IVS-I,3’-end; -25bp, IVS-II-745, FSC-8, Cd-39, FSC-22-24, IVS-I-1, Cd-44, IVSII-2,3 (+11/-2), IVS-I-6, and FSC-16, respectively. The pre sent study not only provides a guide for distribution and frequency of both recurrent and uncommon mutations, but also for the first time, reports a rare -thalassemia mutation, IVSII-2, 3 (+11/-2), in the Isfahan province of Iran. The information presented here could greatly facilitate screening for β-thalassemia and prenatal diagno sis in the prov ince of Isfahan.