HFE haemochromatosis gene mutations in liver transplant patients

Background: The majority of patients with inherited haemochromatosis carry two mutant alleles of the recently discovered HFE gene. Individuals heteroz ygous for the HFE mutation could he predisposed to end-stage liver disease due to other causes. Methods: The frequencies of the HFE gene mutations C28 2Y and H63D were determined in DNA samples obtained from 189 liver transpla nt patients and 225 healthy Finnish blood donors. Results: 5% of the 189 li ver transplant recipients were heterozygotes and 0.5% homozygotes for the C 282Y mutation, while 16%, were heterozygotes and 0.5% homozygotes for the H 63D mutation. These figures were not increased in comparison to controls, o f whom 11% were C282Y heterozygotes, 16% H63D heterozygotes and 0.9% H63D h omozygotes. Among recipients with acute non-A-E hepatitis (n = 31), the fre quency 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. Conclusion: Individuals heterozygous fo r either the C282Y or H63D mutation of the HFE gene are not at increased ri sk of developing chronic endstage liver disease. However, subjects heterozy gous fur the H63D mutation may have an increased risk to develop fulminant non-A-E hepatitis.