Abstract |
The HbF level is a quantitative trait influenced by many loci inside or outside the beta-globin gene cluster. The aim of this study was to analyze in 57 beta-thalassemia intermedia patients with very various genotypes the effects on fetal hemoglobin levels of SNPs lying in three genes or chromosome regions which include the XmnI (G)gamma polymorphism at position -158 of the HBG2 promoter (rs7482144), two SNPs located in the BCL11A region (rs4671393 and rs11886868) and three SNPs located in the HBS1L-MYB region (rs28384513, rs9399137 and rs4895441). Our study shows a strong correlation between the XmnI (G)gamma polymorphism and the fetal hemoglobin expression in this patient population (p=0.002). Unfortunately, although recent studies clearly showed a role of SNPs in BCL11A and a HBS1L-MYB region on either clinical expression or fetal hemoglobin levels of beta- hemoglobinopathies such as sickle cell disease and beta-thalassemia, SNPs in BCL11A and the HBS1L-MYB region did not show statistically significant correlations with fetal hemoglobin levels. This suggests that the BCL11A and HBS1L-MYB loci have a minor effect on HbF level compared to the XmnI QTL in beta-thalassemia intermedia patients.
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Authors | Thi Khanh Tien Nguyen, Philippe Joly, Claire Bardel, Mustapha Moulsma, Nathalie Bonello-Palot, Alain Francina |
Journal | Blood cells, molecules & diseases
(Blood Cells Mol Dis)
Vol. 45
Issue 2
Pg. 124-7
(Aug 15 2010)
ISSN: 1096-0961 [Electronic] United States |
PMID | 20472475
(Publication Type: Journal Article)
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Copyright | 2010 Elsevier Inc. All rights reserved. |
Chemical References |
- BCL11A protein, human
- Carrier Proteins
- Nuclear Proteins
- Repressor Proteins
- alpha-Globins
- beta-Globins
- Fetal Hemoglobin
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Topics |
- Anemia, Sickle Cell
- Carrier Proteins
- Cohort Studies
- Female
- Fetal Hemoglobin
(genetics)
- France
- Genotype
- Humans
- Male
- Nuclear Proteins
- Polymorphism, Single Nucleotide
(genetics)
- Promoter Regions, Genetic
(genetics)
- Repressor Proteins
- Thalassemia
(genetics)
- alpha-Globins
(genetics)
- beta-Globins
(genetics)
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