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Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease
  1. J Grovea,b,
  2. A K Dalyb,
  3. A D Burta,
  4. M Guzaila,
  5. O F W Jamesa,
  6. M F Bassendinea,
  7. C P Daya
  1. aCentre for Liver Research, University of Newcastle upon Tyne, UK, bDepartment of Pharmacological Sciences
  1. Dr C P Day, Department of Medicine, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.


Background—Iron overload is common in the livers of alcoholics and may play a role in disease pathogenesis. An MHC like gene, HFE,has recently been identified that is mutated in most patients with hereditary haemochromatosis (C282Y in 90% and H63D in 45% of the remainder).

Aim—To examine the hypothesis that these mutations determine hepatic iron status in alcoholics and play a role in predisposition to advanced alcoholic liver disease.

Methods—TheHFE gene was genotyped in 257 patients with alcoholic liver disease and 117 locally matched healthy volunteers. In addition, iron staining was scored (0–4) on biopsy specimens from fibrotic/cirrhotic patients with and withoutHFE mutations matched for age and sex.

Results—Some 15.7% of fibrotic/cirrhotic patients were C282Y heterozygotes compared with 13.7% of controls (p = 0.77). One control and three patients were C282Y homozygotes. Of chromosomes without the C282Y mutation, 68/442 (15.4%) of patients’ chromosomes carried the H63D mutation compared with 36/216 (16.6%) of control chromosomes (p = 0.91). Significant (>grade 1) hepatocyte iron staining was seen in 6/23 C282Y heterozygotes and 4/26 H63D heterozygotes compared with 4/23 controls.

Conclusions—Possession of a single copy of either of the two HFEmutations influences neither liver iron content nor the risk of fibrotic disease in alcoholics.

  • alcohol
  • liver disease
  • haemochromatosis
  • haemosiderosis
  • iron overload
  • polymorphism

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