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Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients
Joint Authors
Cyrus, Cyril
Vatte, Chittibabu
Borgio, J. Francis
Al-Rubaish, Abdullah
Chathoth, Shahanas
Nasserullah, Zaki A.
Jarrash, Sana Al
Sulaiman, Ahmed
Qutub, Hatem
Alsaleem, Hassan
Alzahrani, Alhusain J.
Steinberg, Martin H.
Ali, Amein K. Al
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-02-09
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Background and Objectives.
β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively.
The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders.
In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region.
This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients.
Materials and Methods.
A total of 174 transfusion-dependent β-thalassemia patients and 164 healthy controls from Eastern Province of Saudi Arabia were genotyped for fourteen single nucleotide polymorphisms (SNPs) from the three QTL regions using TaqMan assay on real-time PCR.
Results.
Genotype analysis revealed that six alleles of HBS1L-MYB QTL (rs9376090C p=0.0009, rs9399137C p=0.008, rs4895441G p=0.004, rs9389269C p=0.008, rs9402686A p=0.008, and rs9494142C p=0.002) were predominantly associated with β-thalassemia.
In addition, haplotype analysis revealed that haplotypes of HBS1L-MYB (GCCGCAC p=0.022) and HBG2 (GTT p=0.009) were also predominantly associated with β-thalassemia.
Furthermore, the HBS1L-MYB region also exhibited association with the high HbF cohort.
Conclusion.
The stimulation of HbF gene expression may provide alternative therapies for the amelioration of the disease severity of β-thalassemia.
American Psychological Association (APA)
Cyrus, Cyril& Vatte, Chittibabu& Borgio, J. Francis& Al-Rubaish, Abdullah& Chathoth, Shahanas& Nasserullah, Zaki A.…[et al.]. 2017. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. BioMed Research International،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1134388
Modern Language Association (MLA)
Cyrus, Cyril…[et al.]. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. BioMed Research International No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1134388
American Medical Association (AMA)
Cyrus, Cyril& Vatte, Chittibabu& Borgio, J. Francis& Al-Rubaish, Abdullah& Chathoth, Shahanas& Nasserullah, Zaki A.…[et al.]. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1134388
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1134388