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

Abstract

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 as well as transfusion interval in Iranian thalassemic patients with homozygous Intervening Sequence (IVS) 1-5 mutation was 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 IVS 1-5 mutation 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 Polymerase Chain Reaction (PCR) was performed to identify alpha globin deletions. Results: The mean age of participants was 29±7 years. Fifty-eight participants were male and 96 were female. A significant relationship between the presence of Xmn -1 polymorphism and age at receiving first transfusion was detected. Coinheritance of alpha thalassemia mutation did not have a significant effect on age at first transfusion or transfusion interval. Conclusion: The presence of Xmn -1 polymorphism can delay the onset of transfusion in patients with homozygote IVS 1-5 mutation.

Keywords

• Thalassemia; IVS 1-5 mutation; Xmn -1 polymorphism; Blood transfusion