Hemochromatosis gene mutations in chronic hepatitis C patients with and without liver siderosis

Chronic hepatitis C is often associated with liver iron overload, which may affect the long-term prognosis and the response to antiviral treatment. Th e occurrence of hemochromatosis (HFE) mutations were studied to determine w hether may contribute to the liver iron overload of chronic hepatitis C pat ients. The prevalence of two HFE mutations (C282Y and H63D) in 120 chronic hepatitis C patients was determined and the findings were correlated with c linical, histological and virological features. Hepatic iron was determined semiquantitatively by a histochemical hepatic iron index, defined as the r atio of a histochemical staining score to the patient's age, after correcti on for heterogeneous lobular iron distribution. Serum hepatitis C virus (HC V) RNA was measured by bDNA assay and typed by restriction fragment length polymorphism. Liver HCV RNA was measured by a semiquantitative strand-speci fic reverse transcription-polymerase chain reaction (RT-PCR). Excess liver iron was stained in the liver of 36 patients (30%). Siderotic patients had the same geographic origin, serum and liver HCV RNA levels and H63D and C28 2Y mutations frequency as non-siderotic patients. However, siderotic patien ts were older (P = 0.015), more frequently males (P = 0.02), less frequentl y infected with HCV genotype 3 (P = 0.037) and had a higher liver fibrosis score (P = 0.008). The liver iron content did not correlate with the serum or liver HCV RNA titers. Ten of the 36 patients with liver siderosis had ne ither a history of excess alcohol intake, multiple transfusions, or HFE mut ations. In conclusion, the pathogenesis of the liver iron overload in chron ic hepatitis C patients cannot be fully explained by the occurrence of HFE mutations. The exact mechanism of iron accumulation in these patients there fore remains unexplained. J. Med. Virol. 60:21-27, 2000. (C) 2000 Wiley-Lis s, Inc.