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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
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.
ISSN: 09255710
Appears in Collections:Scopus 2006-2010

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