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- Title
Correlations between Multiple SNPs and HbF Levels in ß-Thalassemia Carriers.
- Authors
Qin Xu; Ling Huang; Tingting Jin; Yuanyuan Han; Juan Liu; Wenqiu Zhang; Yao Biao; Bangquan An; Shengwen Huang
- Abstract
Background: Increased hemoglobin F (HbF) expression in individuals with ß-thalassemia contributes to the alleviation of pathological phenomena and the reduction of mortality. We have investigated the correlation between six single nucleotide polymorphisms (SNPs) in BCL11A, XmnI-HBG2, HBS1L-MYB, and ANTXR1 and the levels of HbF in ß-thalassemia carriers. Methods: Samples were collected from 330 cases of ß-thalassemia carriers. The genotypes of the rs4671393, rs7482144, rs28384513, rs4895441, rs9399137, and rs4527238 were determined using Sanger sequencing. Results: The results both of quantitative and qualitative analysis showed that rs4671393 (BCL11A), rs7482144 (Xmn1-HBG2), and rs9399137 (HBS1L-MYB) in ß-thalassemia carriers correlated with the levels of HbF (p < 0.05), only rs28384513 (HBS1L-MYB) and rs4527238 (ANTXR1) were associated with HbF expression in ß-thalassemia minor (p < 0.05). Conclusions: These results indicate that the SNP rs4527238 in the ANTXR1 gene was found likely to play a role as a modulator of HbF levels in ß-thalassemia carriers for the first time.
- Subjects
SINGLE nucleotide polymorphisms; GENOTYPES
- Publication
Clinical Laboratory, 2023, Vol 69, Issue 9, p1875
- ISSN
1433-6510
- Publication type
Article
- DOI
10.7754/Clin.Lab.2023.230220