Publication: Association of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin e
Issued Date
2008-11-01
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ISSN
09255710
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2-s2.0-64249104606
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Mahidol University
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SCOPUS
Bibliographic Citation
International Journal of Hematology. Vol.88, No.4 (2008), 357-361
Suggested Citation
Riyaz A. Pandit, Saovaros Svasti, Orapan Sripichai, Thongperm Munkongdee, Kanokporn Triwitayakorn, Pranee Winichagoon, Suthat Fucharoen, Chayanon Peerapittayamongkol Association of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin e. International Journal of Hematology. Vol.88, No.4 (2008), 357-361. doi:10.1007/s12185-008-0167-3 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/19480
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Title
Association of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin e
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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.