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Underdiagnosis of hereditary haemochromatosis: reflects lack of clinical not biochemical penetrance
  1. D Thorburn1,
  2. A J Morris1,
  3. A J Stanley1,
  4. P R Mills2
  1. 1Gastroenterology Unit, Glasgow Royal Infirmary, 84 Castle St, Glasgow G4 0SF, UK
  2. 2Gastroenterology Unit, Gartnavel General Hospital, 1053 Great Western Road, Glasgow G12 0YN, UK
  1. Correspondence to:
    Dr A J Stanley, Ward 8/9, 84 Castle St, Glasgow G4 0SF, UK;
    adrian.stanley{at}northglasgow.scot.nhs.uk

https://doi.org/10.1136/gut.52.3.455

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    In their paper, Ryan et al (

    ) reported that 78% of men (mean age 42 years) and 36% of women (mean age 39 years) who were identified to be C282Y homozygotes by family screening had evidence of biochemical iron overload. They concluded that underdiagnosis of hereditary haemochromatosis may be the result of failure to diagnose the phenotype in patients with iron overload.

    In Glasgow, the prevalence of the C282Y homozygous state is high at approximately 1 in 180 of the population, of whom only 5.1% had been diagnosed by August 2001.1 Of these known cases we identified …

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