Chronic hepatitis C is frequently associated with increased hepatic iron stores.
It remains controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression.
In this study, researchers from Germany assessed the associations between HFE mutations, and hepatic inflammation and stage of fibrosis in German hepatitis C patients.
The team scored liver biopsies from 166 patients for inflammatory activity and hepatic fibrosis.
In addition, gene mutations were determined using LightCycler, restriction fragment length polymorphism analysis, or direct sequencing.
The researchers found that the frequencies of common HFE mutations C282Y and H63D are 4% and 21%. The S65C substitution and the Y250X mutation in the transferrin receptor 2 gene are very rare.
The team determined that heterozygous carriers of C282Y or H63D mutations have significantly higher inflammatory activity and more advanced fibrosis than patients without mutations.
They found that C282Y mutations were associated with increased serum iron and aminotransferase levels.
H63D heterozygotes have higher transferrin saturation, serum iron, and ferritin concentrations compared to wild-type.
Dr Andreas Geier and colleagues concluded, "Common heterozygous hemochromatosis mutations are associated with higher grades of inflammation and more severe hepatic fibrosis".
"Our findings support a role of HFE mutations as primary risk factors for fibrogenesis and disease progression in chronic hepatitis C".