Publication: Association of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin e
| dc.contributor.author | Riyaz A. Pandit | en_US |
| dc.contributor.author | Saovaros Svasti | en_US |
| dc.contributor.author | Orapan Sripichai | en_US |
| dc.contributor.author | Thongperm Munkongdee | en_US |
| dc.contributor.author | Kanokporn Triwitayakorn | en_US |
| dc.contributor.author | Pranee Winichagoon | en_US |
| dc.contributor.author | Suthat Fucharoen | en_US |
| dc.contributor.author | Chayanon Peerapittayamongkol | en_US |
| dc.contributor.other | Mahidol University | en_US |
| dc.date.accessioned | 2018-07-12T02:36:55Z | |
| dc.date.available | 2018-07-12T02:36:55Z | |
| dc.date.issued | 2008-11-01 | en_US |
| dc.description.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. | en_US |
| dc.identifier.citation | International Journal of Hematology. Vol.88, No.4 (2008), 357-361 | en_US |
| dc.identifier.doi | 10.1007/s12185-008-0167-3 | en_US |
| dc.identifier.issn | 09255710 | en_US |
| dc.identifier.other | 2-s2.0-64249104606 | en_US |
| dc.identifier.uri | https://repository.li.mahidol.ac.th/handle/20.500.14594/19480 | |
| dc.rights | Mahidol University | en_US |
| dc.rights.holder | SCOPUS | en_US |
| dc.source.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=64249104606&origin=inward | en_US |
| dc.subject | Medicine | en_US |
| dc.title | Association of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin e | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| mu.datasource.scopus | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=64249104606&origin=inward | en_US |