The Spectrum of beta -thalassemia Mutations in Isfahan Province of Iran

Background: beta-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta globin genes. The aim of the present study was to identify the distribution and frequency of the most common â-thalassemia mutations among the population of Isfahan Province in central Iran. Methods: The data presented here were derived from a total of 114 â-thalassemia chromosomes of 18 affected patients and 78 unrelated carriers identified in our screening program. Furthermore, 23 pregnant women were analyzed among couples with a PND request for â-thalassemia. Allele identification was carried out using routine Reverse Dot Blot, ARMS, and genomic sequencing. Results: 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 present 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 beta-thalassemia mutation, IVSII-2, 3 (+11/-2), in the Isfahan province of Iran. Conclusion: The information presented here could greatly facilitate screening for beta-thalassemia and prenatal diagnosis in the province of Isfahan.