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International Journal of Hematology-Oncology and Stem Cell Research، جلد ۱۶، شماره ۱، صفحات ۴۷-۵۴
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عنوان انگلیسی 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
چکیده انگلیسی مقاله 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.
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نویسندگان مقاله | Mozhgan Hashemieh
Department of Pediatric Hematology Oncology, Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Zahraalsadat Saadatmandi
Department of Pediatric Hematology Oncology, Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran


| Azita Azarkeivan
Iranian Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Thalassemia Clinic, Tehran, Iran


| Hossein Najmabadi
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
نشانی اینترنتی https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/1388
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