Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5913567 | Blood Cells, Molecules, and Diseases | 2011 | 5 Pages |
Abstract
Our data on 114 Iranian individuals with thalassemia intermedia phenotype revealed homozygous or compound heterozygous beta-globin mutations to be the predominant disease factor in 86.2% of cases. However, 8.2% of these individuals were found to be heterozygous or wild type for beta-globin mutations. In search for determinants outside of the beta-globin gene, which could be responsible for the unexpected thalassemia intermedia phenotype in these subjects, we screened the alpha-globin genes, the 5â²HS3 and 5â²HS4 regions of the beta-globin LCR, and the NF-E2 transcription factor for sequence variations in selected individuals. The -3.7 deletion was the only alpha-globin mutation detected, and no alterations were found in 5â²HS3 and NF-E2. Sequence analysis of the 5â²HS4 LCR core region identified three known SNPs in a single patient, who required irregular blood transfusions. The A/G polymorphism in the 5â²HS4 palindromic region was also observed to be variable. Family studies were carried out on a female G/G homozygous patient, who received irregular blood transfusions. Her father, who had the same heterozygous IVSII-1 beta-globin mutation but the A/G genotype at the 5â²HS4 palindromic site, presented with mild anemia and no requirement for blood transfusions. This suggests an impact of SNPs in the 5â²HS4 LCR core region on the thalassemia phenotype and offers an interesting subject for further investigations in the Iranian population.
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Authors
Maryam Neishabury, Azita Azarkeivan, Christian Oberkanins, Seyedeh Sedigheh Abedini, Shahbaz Zamani, Hossein Najmabadi,