MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA
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. Methods: Study was done on 146 adult Thai patient...
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doaj-cb81ad789b944d488bac3cc31326e7382020-11-24T22:02:35ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062019-06-0111110.4084/mjhid.2019.038MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIAParamee PhanrahanSupawadee YamsriNattiya TeawtrakulGoonnapa FucharoenKanokwan SanchaisuriyaSupan Fucharoen0Dr. , Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen , Thailand 40002; Tel./Fax: +66-43-202- 083; E-mail: Read More: http://informahealthcare.com/doi/abs/10.3109/03630269.2011.638406 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. Methods: Study was done on 146 adult Thai patients with NTDT Hb E-β0-thalassemia and a homozygous β-thalassemia patient without co-inheritance of α-thalassemia. Multiple single-nucleotide polymorphisms (SNPs) associated with γ-globin gene expression including the Gγ-XmnI of HBG2 gene, rs2297339, rs4895441, and rs9399137 of the HBS1L-MYB gene, rs4671393 in the BCL11A gene, and G176AfsX179, T334R, R238H and -154 (C-T) in the KLF1 gene were investigated using PCR-and related techniques. Results: Heterozygous and homozygous for Gg-XmnI of HBG2 gene were detected at 68.0% and 6.1%, respectively. Further DNA analysis identified the rs2297339 (C-T), rs4895441 (A-G), and rs9399137 (T-C) of HBS1L-MYB gene in 86.4%, 22.5% and 20.4%, respectively. The rs4671393 (G-A) of the BCL11A gene was found at 31.3%. For the KLF1 gene, the T334R and G176AfsX179 (+/-) were detected at 8.2% and 1.4%, respectively. Conclusion: It was found that these SNPs when analyzed in combination could explain the mild phenotypic expression of all cases. These results underline the importance of these informative SNPs on phenotypic expression of Hb E-β-thalassemia patients. https://www.mjhid.org/index.php/mjhid/article/view/3916Non-transfusion dependent thalassemia; HBS1L-MYB gene; BCL11A gene; KLF1 gene; Gγ-XmnI polymorphism |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Paramee Phanrahan Supawadee Yamsri Nattiya Teawtrakul Goonnapa Fucharoen Kanokwan Sanchaisuriya Supan Fucharoen |
spellingShingle |
Paramee Phanrahan Supawadee Yamsri Nattiya Teawtrakul Goonnapa Fucharoen Kanokwan Sanchaisuriya Supan Fucharoen MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA Mediterranean Journal of Hematology and Infectious Diseases Non-transfusion dependent thalassemia; HBS1L-MYB gene; BCL11A gene; KLF1 gene; Gγ-XmnI polymorphism |
author_facet |
Paramee Phanrahan Supawadee Yamsri Nattiya Teawtrakul Goonnapa Fucharoen Kanokwan Sanchaisuriya Supan Fucharoen |
author_sort |
Paramee Phanrahan |
title |
MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA |
title_short |
MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA |
title_full |
MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA |
title_fullStr |
MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA |
title_full_unstemmed |
MOLECULAR ANALYSIS OF NON-TRANSFUSION DEPENDENT THALASSEMIA ASSOCIATED WITH HEMOGLOBIN E-β-THALASSEMIA DISEASE WITHOUT α--THALASSEMIA |
title_sort |
molecular analysis of non-transfusion dependent thalassemia associated with hemoglobin e-β-thalassemia disease without α--thalassemia |
publisher |
PAGEPress Publications |
series |
Mediterranean Journal of Hematology and Infectious Diseases |
issn |
2035-3006 |
publishDate |
2019-06-01 |
description |
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.
Methods: Study was done on 146 adult Thai patients with NTDT Hb E-β0-thalassemia and a homozygous β-thalassemia patient without co-inheritance of α-thalassemia. Multiple single-nucleotide polymorphisms (SNPs) associated with γ-globin gene expression including the Gγ-XmnI of HBG2 gene, rs2297339, rs4895441, and rs9399137 of the HBS1L-MYB gene, rs4671393 in the BCL11A gene, and G176AfsX179, T334R, R238H and -154 (C-T) in the KLF1 gene were investigated using PCR-and related techniques.
Results: Heterozygous and homozygous for Gg-XmnI of HBG2 gene were detected at 68.0% and 6.1%, respectively. Further DNA analysis identified the rs2297339 (C-T), rs4895441 (A-G), and rs9399137 (T-C) of HBS1L-MYB gene in 86.4%, 22.5% and 20.4%, respectively. The rs4671393 (G-A) of the BCL11A gene was found at 31.3%. For the KLF1 gene, the T334R and G176AfsX179 (+/-) were detected at 8.2% and 1.4%, respectively.
Conclusion: It was found that these SNPs when analyzed in combination could explain the mild phenotypic expression of all cases. These results underline the importance of these informative SNPs on phenotypic expression of Hb E-β-thalassemia patients.
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topic |
Non-transfusion dependent thalassemia; HBS1L-MYB gene; BCL11A gene; KLF1 gene; Gγ-XmnI polymorphism |
url |
https://www.mjhid.org/index.php/mjhid/article/view/3916 |
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