the molecular analysis of βthalassemia mutations in lorestan province, iran

introduction: to study the prevalence of most common β-thalassemia mutations in lorestan province and use the results for epidemiologic study and prenatal diagnosis of β_thalassemia major. material and methods: 130 chromosomes from 65 unrelated homozygous β_thalassemia patients from lorestan province of iran (west-central) were investigated for β globin gene mutations by arms pcr. results: most common mutations of the mediterranean region were examined in this study. we found a different mutation spectrum in iran compared to the data obtained by other authors. our results showed that codons 36/37 (-t) with a frequency of 33.84% represented the most common mutation followed by the following four mutations in the mediterranean region, ivs-ii-1 (g-->a), ivs-i-110 (g-->a), frameshift codons (fsc) 8/9 (+g) and ivs-i-5 (g-->c) with frequencies 27.69%, 11.53%, 10.76% and 4.47% respectively. the less frequent alleles, ivs-ii-745 (c-->g), codon 5(-ct), ivs-i (25 bp deletion) and frameshift cd44 (-c) with the following frequencies 1.59%, 0.76%, 0.76% and 0.76%, respectively, accounted for only 3.87% of the mutations. no mutations in codon 30 (g-->c), codon 39 (c-->t), ivs-i-6(t-->c) and ivs-i-1(g-->a), were detected. the unknown alleles were 7.63%. conclusion: these data suggest that the pattern of mutations in lorestan province differs from those reported for the mediterranean and other thalassemic regions in iran.