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When HFE gene mutation doesn't make sense

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Iron accumulation and progress of liver disease in chronic hepatitis C infection are not due to HFE mutation, say Thorburn et al from a study of Scottish patients. Chronic infection results in iron build up in serum and the liver, with liver fibrosis. Iron overload in the liver and fibrosis are common to hereditary haemochromatosis, which is mostly caused by having homozygous recessive missense mutations in the HFE gene—either Cys282Tyr or His 63Asp. Some reports suggest that these mutations might underlie iron build up in chronic hepatitis C infection.

The present conclusion comes from a prospective study which screened 164 consecutive patients with chronic hepatitis C infection for HFE mutations, markers of iron accumulation in serum and liver, severity of liver disease, and viral genotype.

Sixty seven patients were heterozygous for HFE mutations: 26 Cys282Tyr, 33 His 63Asp, and eight Cys282Tyr/His 63Asp; seven were homozygous for either mutation and were excluded; and 90 had no mutation. No association between HFE genotype and any of the markers examined could be found when data for the 157 patients were analysed statistically. Thorburn et al were careful to test that 10 non-Caucasian patients in their sample did not skew the results, nor did previous treatment with interferon, and they analysed the results for men and women separately in each of the four genotypic groups to remove effects of age and menstruation.

Raised serum iron concentrations and HFE mutations may be evident in chronic hepatitis C infection, but, seemingly, they are not linked.

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