Riyaz A. PanditSaovaros SvastiOrapan SripichaiThongperm MunkongdeeKanokporn TriwitayakornPranee WinichagoonSuthat FucharoenChayanon PeerapittayamongkolMahidol University2018-07-122018-07-122008-11-01International Journal of Hematology. Vol.88, No.4 (2008), 357-361092557102-s2.0-64249104606https://repository.li.mahidol.ac.th/handle/20.500.14594/19480Increase 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.Mahidol UniversityMedicineAssociation of SNP in exon 1 of HBS1L with hemoglobin F level in β<sup>0</sup>-thalassemia/hemoglobin eArticleSCOPUS10.1007/s12185-008-0167-3