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The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling foetal haemoglobin level in beta thalassaemia carriers
  1. Jason So (scc{at}pathology.hku.hk)
  1. The University of Hong Kong, Hong Kong
    1. You-Qiang Song
    1. The University of Hong Kong, Hong Kong
      1. Stella Tsang
      1. The University of Hong Kong, Hong Kong
        1. Ling-Fung Tang
        1. The University of Hong Kong, Hong Kong
          1. Amy Chan
          1. The University of Hong Kong, Hong Kong
            1. Edmond Ma
            1. Hong Kong Sanatorium and Hospital, Hong Kong
              1. Li-Chong Chan
              1. The University of Hong Kong, Hong Kong

                Abstract

                Background: Foetal haemoglobin (Hb F) level modifies 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 Hb F levels in normal Caucasian adults.

                Methods: A unique and well-characterised cohort of 238 Chinese subjects with £] thalassaemia trait was used to conduct a single nucleotide polymorphism (SNP) association study for Hb F level.

                Results: Within this locus, 29 trait-associated SNPs in a non-coding 56 kb segment were identified. They were divided into 5 linkage disequilibrium (LD) blocks in Chinese.

                Conclusions: The data independently validate for the first time the significance of the HBS1L-MYB intergenic region in regulating Hb F expression in a separate ethnic group that has a high prevalence of £] thalassaemia. Functional studies to unravel the biological significance of this region in regulating Hb F production is clearly indicated, which may lead to new strategies to modify the disease course of severe HBB disorders.

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