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.