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BioMed Research International
Volume 2017, Article ID 1972429, 7 pages
Research Article

Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients

1Department of Genetic Research, Institute for Research and Medical Consultation, University of Dammam, Dammam, Saudi Arabia
2King Fahd Hospital of the University, University of Dammam, Dammam, Saudi Arabia
3Maternity and Children’s Hospital, Dammam, Saudi Arabia
4Al-Omran Scientific Chair for Hematological Diseases, King Faisal University, Maternity and Children’s Hospital, Dammam, Saudi Arabia
5College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia
6Center of Excellence in Sickle Cell Disease, Department of Medicine, Boston University School of Medicine, Boston, MA, USA

Correspondence should be addressed to Cyril Cyrus; as.ude.dou@surycc

Received 9 October 2016; Revised 14 December 2016; Accepted 16 January 2017; Published 9 February 2017

Academic Editor: Milton O. Moraes

Copyright © 2017 Cyril Cyrus et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 , rs9399137C , rs4895441G , rs9389269C , rs9402686A , and rs9494142C ) were predominantly associated with β-thalassemia. In addition, haplotype analysis revealed that haplotypes of HBS1L-MYB (GCCGCAC ) and HBG2 (GTT ) 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.