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

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.

• Authors: Riyaz A Pandit, Saovaros Svasti, Orapan Sripichai, Thongperm Munkongdee, Kanokporn Triwitayakorn, Pranee Winichagoon, Suthat Fucharoen, Chayanon Peerapittayamongkol
• Journal: International journal of hematology (Int J Hematol) Vol. 88 Issue 4 Pg. 357-361 (Nov 2008) ISSN: 1865-3774 [Electronic] Japan
• PMID: 18839276 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• HSP70 Heat-Shock Proteins
• Hemoglobin E
• Fetal Hemoglobin

Topics

• Adolescent
• Adult
• Alleles
• Child
• Child, Preschool
• Exons (genetics)
• Female
• Fetal Hemoglobin (analysis)
• Genome, Human (genetics)
• HSP70 Heat-Shock Proteins (genetics, metabolism)
• Hemoglobin E
• Humans
• Male
• Polymorphism, Single Nucleotide
• Quantitative Trait Loci (genetics)
• beta-Thalassemia (blood, genetics)