Association of SNP in exon 1 of HBS1L with hemoglobin F level in β0-thalassemia/hemoglobin E
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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.
Keywordsβ-Thalassaemia/Hb E Hemoglobin F HBS1L XmnI-Gγ-polymorphism Single nucleotide polymorphism (SNP) Genotype–phenotype interaction
This work was supported by National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand and the Thailand Research Fund. We are grateful to Dr. Prapon Wilairat for proof reading the manuscript.
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