The HFE gene heterozygosis H63D: a cofactor for liver damage in patients with steatohepatitis? Epidemiological and clinical considerations


  • Funding: Grant from the Italian Ministry of University and Scientific and Technological Research (60%).

    Potential conflicts of interest: None

Sergio Neri, Department of Internal Medicine, Policlinico, University of Catania, Via S. Sofia 86, 95123 Catania, Italy.


Background:  The altered status of iron metabolism is reported in hereditary haemochromatosis and in non-alcoholic liver fatty disease. We investigated the relation between the H63D HFE mutation gene and non-alcoholic steatohepatitis (NASH).

Methods:  We studied as outpatients, 272 Italian persons with NASH and compared them with 430 healthy subjects. Genetic screening for haemochromatosis, haematochemical tests, liver ultrasound examination and liver biopsies were carried out.

Results:  The prevalence of heterozygosity for the H63D mutation in NASH patients was not significantly greater than controls. In assessing the C282Y HFE gene mutation alone, the percentage of heterozygosis for C282Y was not different in subjects with NASH compared with controls. As regards a mutation C282Y/H63D there was no significant difference between the two groups. The mean fibrosis score was not significantly different between subjects of group A, with and without HFE mutations (1 ± 8 and 1 ± 9, respectively); we did not find a significant correlation between hepatic iron concentration and histological score between subjects.

Conclusion:  We have not found a significantly increased prevalence of the mutation H63D in the HFE gene in our patients with NASH. In these patients there was no more severe hepatic histological score when compared with NASH subjects without HFE mutations.