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International Journal of Hematology

, Volume 88, Issue 4, pp 357–361 | Cite as

Association of SNP in exon 1 of HBS1L with hemoglobin F level in β0-thalassemia/hemoglobin E

  • Riyaz A. Pandit
  • Saovaros Svasti
  • Orapan Sripichai
  • Thongperm Munkongdee
  • Kanokporn Triwitayakorn
  • Pranee Winichagoon
  • Suthat Fucharoen
  • Chayanon PeerapittayamongkolEmail author
Rapid Communication

Abstract

Increase in fetal hemoglobin (Hb F) reduces globin chain imbalance in β-thalassemia, consequently improving symptoms. QTL mapping together with previous genome-wide association study involving approximately 110,000 gene-based SNPs in mild and severe β0-thalassemia/Hb E patients revealed SNPs in HBS1L significantly associated with severity and Hb F levels. Given its potential as binding site for transcription factor activator protein 4, HBS1L exon 1 C32T polymorphism was genotyped in 455 cases, providing for the first time evidence that C allele is associated with elevated Hb F level among β0-thalassemia/Hb E patients with XmnI-Gγ−/−and XmnI-Gγ+/−polymorphisms.

Keywords

β-Thalassaemia/Hb E Hemoglobin F HBS1L XmnI-Gγ-polymorphism Single nucleotide polymorphism (SNP) Genotype–phenotype interaction 

Notes

Acknowledgments

This work was supported by National Center for Genetic Engineering and Biotechnology (BIOTEC), Thailand and the Thailand Research Fund. We are grateful to Dr. Prapon Wilairat for proof reading the manuscript.

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Copyright information

© The Japanese Society of Hematology 2008

Authors and Affiliations

  • Riyaz A. Pandit
    • 1
    • 2
  • Saovaros Svasti
    • 1
    • 3
  • Orapan Sripichai
    • 1
    • 3
  • Thongperm Munkongdee
    • 1
    • 4
  • Kanokporn Triwitayakorn
    • 2
  • Pranee Winichagoon
    • 1
  • Suthat Fucharoen
    • 1
    • 4
  • Chayanon Peerapittayamongkol
    • 4
    Email author
  1. 1.Thalassemia Research Center, Institute of Science and Technology for Research and DevelopmentMahidol University, Salaya CampusNakornpathomThailand
  2. 2.Institute of Molecular Biology and GeneticsMahidol University, Salaya CampusNakornpathomThailand
  3. 3.Department of Biochemistry, Faculty of ScienceMahidol UniversityBangkokThailand
  4. 4.Department of Biochemistry, Faculty of Medicine, Siriraj HospitalMahidol UniversityBangkokThailand

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