1 Medical Science Program, Graduate School, Khon Kaen University.
2 Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University.
3 Department of Internal Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
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Background: The finding of many Thai Hb E-β0-thalassemia
patients with non-transfusion dependent thalassemia (NTDT) phenotype
without co-inheritance of α-thalassemia has prompted us to investigate
the existence of other genetic modifying factors.
Materials and Methods
|Figure1. Representative agarose gel electrophoresis for identification of four KLF1 SNPs using allele specific PCR assays including the G176AfsX179 (A), -154 (C-T) and T334R (B), and R328H (C).|
|Figure 2. The temperature shifted curves and difference curves of the three HRM assays for identification of rs4671393 (G-A) in the BCL11A gene and rs4895441 (A-G) & rs9399137 (T-C) of the HBS1L-MYB gene.|
|Table 1. Globin genotypes and associated hematological parameters of 122 NTDT subjects with Hb E-β-thalassemia.|
|Table 2. The proportions of SNPs in HBG2, KLF1, BCL11A and HBS1L-MYB genes observed among 122 Thai NTDT patients.|
|Table 3. Effect of SNPs detected on Hb F levels in 122 Hb E-β-thal patients.|
|Table 4. Proportions of patients according to number of carrying SNPs (1-5) observed among 122 Thai NTDT patients with Hb E-β-thalassemia disease.|
|Figure 3. Proportions of subjects with 1-5 SNPs among 122 Thai NTDT patients with Hb E-β-thalassemia disease.|