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C282Y mutation and hepatic iron status in hepatitis C and cryptogenic cirrhosis
1Department of Pathology, University of Medicine and Dentistry--New Jersey Medical School, Newark 07103, USA.
Insights
Hepatitis C patients show increased liver iron, with HFE gene mutations playing a minor role in iron accumulation. This study analyzed hepatic iron concentration and C282Y mutation prevalence in cirrhosis patients.
Area of Science:
- Hepatology
- Medical Genetics
Background:
- Liver iron deposition is observed in primary and secondary hemochromatosis.
- Significant hepatic iron can occur without clear clinical risk factors.
- The HFE gene discovery allows screening for hereditary hemochromatosis mutations like C282Y.
Purpose of the Study:
- To investigate the prevalence of the HFE gene C282Y mutation in liver transplant patients with hepatitis C or cryptogenic cirrhosis.
- To correlate HFE C282Y mutation findings with hepatic iron concentration in these patient groups.
Main Methods:
- Analysis of liver tissue from 50 transplant patients diagnosed with hepatitis C cirrhosis or cryptogenic cirrhosis.
- Screening for the HFE gene C282Y mutation.
- Quantification of hepatic iron concentration.
Main Results:
- The C282Y mutation was found in 3 of 26 hepatitis C cirrhosis cases and 1 of 22 cryptogenic cirrhosis cases.
- Increased stainable iron was observed in hepatitis C cirrhosis (76.9%) compared to cryptogenic cirrhosis (50%).
- Hepatitis C patients with the C282Y mutation showed varying degrees of hepatic iron accumulation.
Conclusions:
- Patients with hepatitis C exhibit a greater tendency for liver iron accumulation.
- HFE gene mutations appear to play a limited role in the hepatic iron accumulation observed in these patients.
Background:
Increased iron deposition in liver is seen in both primary and secondary hemochromatosis. However, it is not uncommon to see significant iron deposition in a liver biopsy, explant, or autopsy specimen without any significant clinical risk factor. Because of the discovery of the candidate gene (HFE) for hereditary hemochromatosis, we may now be able to screen high-risk patient populations for the abnormal mutation (C282Y).
Materials And Methods:
In this study we analyzed the livers of 50 transplant patients with a diagnosis of either hepatitis C cirrhosis or cryptogenic cirrhosis for the prevalence of the more common C282Y mutation of the HFE gene and correlated the findings to hepatic iron concentration.
Results:
Of the 26 cases of hepatitis C cirrhosis, 3 were found to be heterozygous for the C282Y mutation. Of the 22 cases of cryptogenic cirrhosis, 1 was found to be heterozygous for the C282Y mutation. Stainable iron was increased in hepatitis C cirrhosis (76.9%) as compared to cryptogenic cirrhosis (50%) (P =. 05). Of the 3 heterozygotes with hepatitis C cirrhosis, 2 showed hepatic iron concentrations of 3+ and 4+, and 1 showed 1+.
Conclusions:
We conclude that patients with hepatitis C have an increased tendency to accumulate iron in the liver, and mutations in the HFE gene play a minor role in hepatic accumulation of iron in these patients.