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Int J Hematol. 2008 Nov;88(4):357-361. doi: 10.1007/s12185-008-0167-3. Epub 2008 Oct 7.

Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.

Author information

1
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya Campus, Nakornpathom, Thailand.
2
Institute of Molecular Biology and Genetics, Mahidol University, Salaya Campus, Nakornpathom, Thailand.
3
Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand.
4
Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand.
5
Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand. sicpr@mahidol.ac.th.

Abstract

Increase in fetal hemoglobin (Hb F) reduces globin chain imbalance in beta-thalassemia, consequently improving symptoms. QTL mapping together with previous genome-wide association study involving approximately 110,000 gene-based SNPs in mild and severe beta(0)-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 beta(0)-thalassemia/Hb E patients with XmnI-(G)gamma-/-and XmnI-(G)gamma+/-polymorphisms.

PMID:
18839276
DOI:
10.1007/s12185-008-0167-3
[Indexed for MEDLINE]

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