Article
Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta0-thalassemia/hemoglobin E.
International journal of hematology - 1 Nov 2008
Pandit Riyaz A, Svasti Saovaros, Sripichai Orapan, Munkongdee Thongperm, Triwitayakorn Kanokporn, Winichagoon Pranee, Fucharoen Suthat, Peerapittayamongkol Chayanon
Abstract excerpt
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...
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