the spectrum of β -thalassemia mutations in isfahan province of iran

Authors

p derakhshandeh-peykar

h hourfar

m heidari

m kheirollahi

abstract

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.

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Journal title:
iranian journal of public health

جلد ۳۷، شماره ۲، صفحات ۱۰۶-۱۱۱

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