Assessment of Silent Liver Fibrosis in Hemochromatosis C282Y Homozygotes With Normal Transaminase Levels

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Background & Aims:

Population screening studies for hemochromatosis have demonstrated an increase in liver disease in C282Y homozygotes, but many participants have no evidence of liver dysfunction. Previous studies have suggested that liver fibrosis in hemochromatosis might be silent. The objective of this study was to assess the degree of liver injury in referred C282Y homozygotes who underwent elective liver biopsy and had serum AST and ALT levels <40 IU/L.


All C282Y homozygotes who underwent liver biopsy with normal AST and ALT levels were included in this study.


There were 35 men and 16 women in the study with a mean age of 51 years (range, 16–89). The mean serum ferritin level was 637 μg/L (range, 18–2062), and mean liver iron concentration was 131 μmol/g (range, 11–386). There were 42 patients with no fibrosis, 6 patients with fibrosis, and 3 patients with cirrhosis.


Silent liver fibrosis with normal transaminase levels is seen in 18% of referred C282Y homozygotes. Studies that have reported on biochemical liver dysfunction in hemochromatosis might have underestimated the prevalence of liver injury from iron overload.

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