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

Background: β-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 β-thalassemia mu­tations among the population of Isfahan Province in central Iran. Methods: The data presented here were derived from a total of 114 β-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 β-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 b-thalassemia mutation, IVSII-2, 3 (+11/-2), in the Isfahan province of Iran. Conclusion: The information presented here could greatly facilitate screening for β-thalassemia and prenatal diagno­sis in the prov­ince of Isfahan.