The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia.

@article{So2008TheHI,
  title={The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia.},
  author={C-C So and Yoon Kang Song and Stella T Y Tsang and L-F Tang and Anne Y Y Chan and Edmond S. K. Ma and L-C Chan},
  journal={Journal of medical genetics},
  year={2008},
  volume={45 11},
  pages={745-51}
}
BACKGROUND Fetal haemoglobin (HbF) level modifies the clinical severity of HBB disorders. Intergenic variants of HBS1L-MYB on chromosome 6q23 have recently been shown to be a major quantitative trait locus (QTL) influencing HbF levels in normal Caucasian adults. METHODS A unique and well-characterised cohort of 238 Chinese subjects with beta-thalassaemia trait was used to conduct a single-nucleotide polymorphism (SNP) association study for HbF level. RESULTS Within this locus, 29 trait… CONTINUE READING

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