بررسي جهش هاي ژن شايع بتاگلوبين در بيماران مبتلا به تالاسمي ماژور در استان خوزستان به روش RDB

A report on prevalence of P-thalassemia gene mutations in thalassemia patients from Khuzestan province

Objective: p-Thalassemia is one of the most common inherited gene disorders in Iran. Iran is on the thalassemia world belt map and around of 5-10% of Khuzestanian population are carriers of p-thalassemia gene. On the other hand, since Khuzestanian population is a mixture of different ethic groups, the aim of this study was to determine frequency and distribution of mutations in this part of country during prenatal diagnosis. Subjects and Methods: In this perspective crossed-sectional study, we studied the genetic mutations of 116 affected patients whom were resident in different place of Khuzestan by simple random sampling method. The technique applied in this research was reverse dot bolt hybridization. EDTA blood was taken for DNA analysis using Vinea-Lab kit (Austria). Results: From 116 cases (59% were females) altogether 232 chromos were analyzed. Thalassemia major chromosome was detected in 78.4% of cases. Codon 36/37 (14.7%) was the most common mutative found in our study. The descending order of prevalence of other gene mutations were: IVSIIO, IVSII-I, Codon 8 and Codon 5 were 14.2, 6.9, 6.5 and 5.2 % respectively. Remaining mutations (21.6%) were undiagnosed with this technique. Conclusion: Codon 36/37 is the most common mutation in Khuzestan, Iran.