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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 4
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Original

An Unusually Frequent β-Thalassemia Mutation in an Iranian Province

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Pages 387-392 | Received 07 Jan 2007, Accepted 30 Mar 2007, Published online: 07 Jul 2009
 

Abstract

Iran, a country located on the “thalassemia belt”, is an area with an unusually high prevalence of β-thalassemia (thal). The gene frequency of thalassemia shows great variation within Iran from one area to another. The purpose of this study was to determine the spectrum of β-thal mutations in Sistan-Baluchestan (S-B), a southeastern province of Iran which has a high mutation frequency of about 10%, and to compare this with neighboring provinces and countries. A total of 400 carriers (200 pre-marriage young couples selected at centers conducting prenatal diagnosis programs) with an established diagnosis of β-thal minor, were enrolled into the study. Mutations in the β-globin gene were detected using amplification refractory mutation system (ARMS) and restriction fraction length polymorphism (RFLP). Three hundred and sixty mutant chromosomes (13 different mutations) were detected with the two most common mutations accounting for about 80% of all detected β-thal alleles in this region. The most common mutation by far was IVS-I-5 (G>C) (72.3%), followed by frameshift codons (FSC) 8/9 (+G) (5.8%) and codon 44 (−C) (2.5%). In conclusion, IVS-I-5 and FSC 8/9 (+G) account for about 80% of all mutations in S-B. Sistan-Baluchestan may be regarded as the ‘hot zone’ for the IVS-I-5 mutation.

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