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http://repository.li.mahidol.ac.th/dspace/handle/123456789/19480| Title: | Association of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin e |
| Authors: | Riyaz A. Pandit Saovaros Svasti Orapan Sripichai Thongperm Munkongdee Kanokporn Triwitayakorn Pranee Winichagoon Suthat Fucharoen Chayanon Peerapittayamongkol Mahidol University |
| Keywords: | Medicine |
| Issue Date: | 1-Nov-2008 |
| Citation: | International Journal of Hematology. Vol.88, No.4 (2008), 357-361 |
| Abstract: | Increase in fetal hemoglobin (Hb F) reduces globin chain imbalance in β-thalassemia, consequently improving symptoms. QTL mapping together with previous genome-wide association study involving approximately 110,000 gene-based SNPs in mild and severe β0-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels. Given its potential as binding site for transcription factor activator protein 4, HBS1L exon 1 C32T polymorphism was genotyped in 455 cases, providing for the first time evidence that C allele is associated with elevated Hb F level among β0-thalassemia/Hb E patients with XmnI-Gγ-/-and XmnI-Gγ+/-polymorphisms. © 2008 The Japanese Society of Hematology. |
| URI: | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=64249104606&origin=inward http://repository.li.mahidol.ac.th/dspace/handle/123456789/19480 |
| ISSN: | 09255710 |
| Appears in Collections: | Scopus 2006-2010 |
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