Longevity and C282Y mutation for haemochromatosis: Survival of C282Y homozygotes does not preclude screening for HFE mutations

BMJ 2003; 327 doi: https://doi.org/10.1136/bmj.327.7421.990-a (Published 23 October 2003) Cite this as: BMJ 2003;327:990
  1. Gavin Willis, clinical scientist (gavin.willis@nnuh.nhs.uk),
  2. Barbara A Jennings, lecturer in molecular medicine,
  3. Jennie Z Wimperis, consultant haematologist
  1. Molecular Genetics, Norfolk and Norwich University Hospital, Norwich NR4 7UY
  2. School of Medicine, University of East Anglia, Norwich NR4 7TJ
  3. Department of Haematology, Norfolk and Norwich University Hospital

    EDITOR–In their recent paper, Coppin et al found surviving elderly people who were homozygous for the C282Y mutation at a frequency similar to our previous study.1 2 Their results illustrate clearly and simply that fatal disease is not an invariant outcome for untreated women who are homozygous for the C282Y mutation, and our study drew the same conclusion for …

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