Background/aims: The utility of standard diagnostic tests for hereditary hemochromatosis in end-stage liver disease is unknown. A homozygous mutation (Cys 282 Tyr) has been identified in most patients with hereditary hemochromatosis. We examined whether serum iron studies and hepatic iron measurement distinguish end-stage liver disease patients with Cys 282 Tyr-associated hereditary hemochromatosis.
Methods: Serum iron, total iron binding capacity, and ferritin were measured in 106 cirrhotic patients prior to liver transplantation. Hepatic iron concentration and hepatic iron index were measured from explant liver tissue. Genotyping was performed on explant liver tissue in patients with an elevated hepatic iron index (>1.9).
Results: Thirty-three of 106 (31%) patients had elevated serum iron studies suggestive of hereditary hemochromatosis. Only four of 33 (12%) had a mean hepatic iron index >1.9, and none of the four patients was homozygous for Cys 282 Tyr. All four had liver disease due to hepatitis C and/or alcohol.
Conclusions: (i) Serum transferrin saturation and hepatic iron index lack specificity for hereditary hemochromatosis in end-stage liver disease. (ii) Genotyping for Cys 282 Tyr may provide the best method to identify hereditary hemochromatosis in the setting of end-stage liver disease.