@article{PRASING_MEKKI_TRAISATHIT_PISSARD_PORNPRASERT_2017, title={Genotyping of BCL11A and HBS1L-MYB Single Nucleotide Polymorphisms in β-thalassemia/HbE and Homozygous HbE Subjects with Low and High Levels of HbF}, volume={15}, url={https://wjst.wu.ac.th/index.php/wjst/article/view/3151}, DOI={10.48048/wjst.2018.3151}, abstractNote={<p>Whether multiple single nucleotide polymorphisms (SNPs) of <em>BCL11A</em> and <em>HBS1L-MYB</em> genes affect hemoglobin (Hb)F production and hematological parameter variation in β-thalassemia/HbE and homozygous HbE in Thai subjects with low and high HbF levels are still unclear.<strong> </strong>Three SNPs of <em>BCL11A</em> gene (rs1427407, rs10189857 and rs11886868) and 3 SNPs of <em>HBS1L-MYB</em> gene (rs4895441, rs9399137 and rs28384513) were analyzed in 45 β-thalassemia/HbE patients who had HbF levels lower and higher than 15 %, and in 50 homozygous HbE who had HbF levels lower and higher than 5 %. Their hematological parameters were measured using automated blood counter. The HbF level was analyzed using high performance liquid chromatography (HPLC).<strong> </strong>There were no statistical significant differences of allele and genotype frequencies of 3 SNPs in the <em>BCL11A</em> gene between the groups of β-thalassemia/HbE patients and homozygous HbE subjects with low and high HbF levels. Significant differences in the allele frequencies in <em>HBS1L-MYB </em>SNP rs4895441 (<em>p</em> = 0.041) and rs9399137 (<em>p</em> = 0.048) were observed in homozygous HbE subjects with HbF £ 5 % and > 5 %. Moreover, significant differences in MCV (<em>p</em> = 0.005) and trends towards significant differences in MCH (<em>p</em> = 0.057) and HbF levels (<em>p</em> = 0.051) were found in <em>HBS1L-MYB </em>SNP rs9399137 of homozygous HbE subjects.<strong> </strong>Therefore, the<strong> </strong><em>HBS11L-MYB</em> SNPs especially rs9399137 had an effect on HbF production and the variation of hematological parameters in homozygous HbE subjects, but not in β-thalassemia/HbE patients.</p>}, number={9}, journal={Walailak Journal of Science and Technology (WJST)}, author={PRASING, Watcharee and MEKKI, Chadia and TRAISATHIT, Patrinee and PISSARD, Serge and PORNPRASERT, Sakorn}, year={2017}, month={Jun.}, pages={627–636} }