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 betaglobin genes. the aim of the present study was to identify the distribution and frequency of the most common â-thalassemiamutations 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 and78 unrelated carriers identified in our screening program. furthermore, 23 pregnant women were analyzed among coupleswith a pnd request for â-thalassemia. allele identification was carried out using routine reverse dot blot, arms, and genomicsequencing.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 presentstudy not only provides a guide for distribution and frequency of both recurrent and uncommon mutations, but also for thefirst 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 inthe province of isfahan.