the effect of xmn -1 polymorphism and coinheritance of alpha mutations on age at first blood transfusion in iranian patients with homozygote ivs 1-5 mutation

Background: thalassemia syndromes are the most prevalent hereditary hemoglobinopathies in the world. iran is located on the thalassemia belt. in this study, the effect of xmn -1 polymorphism and coinheritance of alpha mutations on age at first transfusion and also transfusion interval in iranian thalassemic patients with homozygous ivsi-5 mutation were assessed.materials and methods: in this retrospective cross-sectional study 154 transfusion dependent thalassemia (tdt) patients (140 patients with β-thalassemia major and 14 cases with β-thalassemia intermedia) who were homozygote of ivsi-5 mutation have been participated. blood samples were collected from participants using edta containers for genomic dna analysis. dna extraction and amplification-refractory mutation to determine the xmn -1 polymorphism were performed. multiplex pcr was performed to identify alpha globin deletions.results: the mean age of participants was 29±7, 58 of them were male and 96 were female. a significant relation between presence of xmn -1 polymorphism and age at receiving first transfusion was detected. coinheritance of alpha thalassemia mutation does not have significant effect on age at first transfusion or transfusion interval.conclusion: presence of xmn -1 polymorphism can delay the onset of transfusion in patients with homozygote ivsi-5 mutation.