Author/Authors :
Talebi Kakroodi، Setareh نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Jafari Vesiehsari، Mahjoobeh نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Abedini، Sedigheh نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Ghobakhloo، Sepideh نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Dehghani، Hossein نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Keyhani، Elaheh نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Azarkeivan، Azita نويسنده Transfusion Research Center,Department of Thalassaemia Clinic,High Institute for Research and Education in Transfusion Medicine,Tehran,Iran , , Zamani، Fahimeh نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Najmabadi، Hossein نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran , , Neishabury، Maryam نويسنده Genetics Research Center,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran ,
Abstract :
Our previous studies on thalassemia patients, homozygous or compound heterozygous for severe beta thalassemia mutations, has suggested that 5’HS4LCR and/or Xmn1HBG2 backgrounds, which were linked in our thalassemia patients, are important in determining the blood transfusion dependency of these individuals. While the majority of patients with AA/ 5’HS4/Xmn1 background, were severely dependent on blood transfusion, a considerable variation in blood transfusion requirement was observed among patients with GG/++ background. To investigate other factors that could explain this diversity among GG/++ patients, 2 BCL11A together with 2 HBS1LMYB SNPs, associated with HbF levels in GWAS, were genotyped. Five groups of patients with specific genotypic patterns for these SNPs were identified. However, a similar distribution pattern of phenotypes was observed in all groups, ranging from extremely mild to severe. These preliminary results indicate that the heterogeneity observed in the phenotype of patients with the same background for 5’HS4Xmn1, could not be explained by the difference in BCL11A and/or HBS1LMYB SNPs in this study. Therefore these SNPs alone, could have limited value in terms of clinical decision making.
