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H63/H63D genotype and the H63D allele are associated in patients with hyperferritinemia to the development of metabolic syndrome

  • Agustin Castiella
    Correspondence
    Corresponding author at: Gastroenterology Service, Donostia University Hospital, P. Dr Beguristain s/n, 20014 Donostia, Spain.
    Affiliations
    Gastroenterology Service, Donostia University Hospital, P. Dr Beguristain s/n, 20014 Donostia, Spain

    Gastroenterology Service, Mendaro hospital, Mendaro, Spain
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  • Iratxe Urreta
    Affiliations
    Clinical Epidemiology Unit, CASPe, CIBER-ESP, Donostia University Hospital, P. Dr Beguristain s/n, 20014 Donostia, Spain
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  • Eva Zapata
    Affiliations
    Gastroenterology Service, Donostia University Hospital, P. Dr Beguristain s/n, 20014 Donostia, Spain
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  • M Dolores de Juan
    Affiliations
    Immunology Unit, Donostia University Hospital, P. Dr Beguristain s/n, 20014 Donostia, Spain
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  • Jose I. Emparanza
    Affiliations
    Clinical Epidemiology Unit, CASPe, CIBER-ESP, Donostia University Hospital, P. Dr Beguristain s/n, 20014 Donostia, Spain
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  • on behalf of theBurnia Group
    Author Footnotes
    1 Members of the Burnia Group: Hospital de Mendaro: Leire Zubiaurre, Eva Zapata, Agustín Castiella, Arantxa Iribarren; Hospital Universitario Donostia: Leire Zubiaurre, Eva Zapata, Agustín Castiella, Usua Mendarte, Luis Bujanda, Nerea Muro, Begoña Ibarra, M.Dolores de Juan, Iratxe Urreta, Jose I. Emparanza; Osatek Donostia: Jose M.Alústiza, Emma Salvador; Hospital de Mondragón: Pedro Otazua, Aitor de Juan; Hospital de Galdakao: Garazi Letamendi; Hospital de Cruces: Beatriz Arrizabalaga; Hospital del Bidasoa: Maria Luisa Rincón.
  • Author Footnotes
    1 Members of the Burnia Group: Hospital de Mendaro: Leire Zubiaurre, Eva Zapata, Agustín Castiella, Arantxa Iribarren; Hospital Universitario Donostia: Leire Zubiaurre, Eva Zapata, Agustín Castiella, Usua Mendarte, Luis Bujanda, Nerea Muro, Begoña Ibarra, M.Dolores de Juan, Iratxe Urreta, Jose I. Emparanza; Osatek Donostia: Jose M.Alústiza, Emma Salvador; Hospital de Mondragón: Pedro Otazua, Aitor de Juan; Hospital de Galdakao: Garazi Letamendi; Hospital de Cruces: Beatriz Arrizabalaga; Hospital del Bidasoa: Maria Luisa Rincón.
Published:November 30, 2019DOI:https://doi.org/10.1016/j.ejim.2019.11.021
      The metabolic syndrome (MtS) is present in the 25% of the population of Western countries [
      • Alkerwi A
      • Donneau AF
      • Sauvageor N
      • Lair ML
      • Scheen A
      • Albert A
      • et al.
      Prevalence of the metabolic syndrome in Luxembourg according to the Joint Interim Statement definition estimated from the Oriscav-Lux study.
      ]. MtS is frequently associated with hyperferritinemia (HF) and this can be produced by mutations in the HFE gene [
      • Castiella A.
      • Zapata E.
      • Zubiaurre L.
      • Ma Alustiza J.
      • De Juan M.D.
      • Iribarren A.
      • Emparanza J.I.
      • Otazua P
      Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country.
      ,
      • Ong S.Y.
      • Nicoll A.J.
      • Delatycki M.B
      How should hyperferritinemia be investigated and managed?.
      ]. Mutations in the HFE gene, such as H63D / H63D, can be associated with MtS [
      • Castiella A.
      • Zapata E.
      • Zubiaurre L.
      • Ma Alustiza J.
      • De Juan M.D.
      • Iribarren A.
      • Emparanza J.I.
      • Otazua P
      Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country.
      ].
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