title: HFE haemochromatosis gene mutations in liver transplant patients.
abstract: BACKGROUND
  The majority of patients with inherited haemochromatosis carry two mutant alleles of the recently discovered HFE gene. Individuals heterozygous for the HFE mutation could be predisposed to end-stage liver disease due to other causes.
  
  
  METHODS
  The frequencies of the HFE gene mutations C282Y and H63D were determined in DNA samples obtained from 189 liver transplant patients and 225 healthy Finnish blood donors.
  
  
  RESULTS
  5% of the 189 liver transplant recipients were heterozygotes and 0.5% homozygotes for the C282Y mutation, while 16% were heterozygotes and 0.5% homozygotes for the H63D mutation. These figures were not increased in comparison to controls, of whom 11% were C282Y heterozygotes, 16% H63D heterozygotes and 0.9% H63D homozygotes. Among recipients with acute non-A-E hepatitis (n = 31), the frequency of the H63D allele was higher than in controls (21% versus 9.1%, P < 0.01). Perls' stain for iron in explanted liver specimens was positive in 28% of recipients with alcoholic cirrhosis, 26% of patients with acute non-A-E hepatitis and 14% in the rest of the recipients. The HFE genotypes did not correlate with the iron status.
  
  
  CONCLUSIONS
  Individuals heterozygous for either the C282Y or H63D mutation of the HFE gene are not at increased risk of developing chronic end-stage liver disease. However, subjects heterozygous for the H63D mutation may have an increased risk to develop fulminant non-A-E hepatitis.
authors.affiliation: Dept. of Surgery, University of Helsinki, Finland. leena.halme@hus.fi
authors.forename: L
authors.initials: L
authors.lastname: Halme
authors.forename: T
authors.initials: T
authors.lastname: Heliö
authors.forename: J
authors.initials: J
authors.lastname: Mäkinen
authors.forename: K
authors.initials: K
authors.lastname: Höckerstedt
authors.forename: M
authors.initials: M
authors.lastname: Färkkilä
authors.forename: K
authors.initials: K
authors.lastname: Piippo
authors.forename: T
authors.initials: T
authors.lastname: Krusius
authors.forename: K
authors.initials: K
authors.lastname: Kontula
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000473:pathology; D016031:Liver Transplantation; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins