BACKGROUND: Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT). OBJECTIVES: To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. METHODS: Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT. RESULTS: The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0.001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT. CONCLUSIONS: There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent.

Department of Medicine 1 and Center for Research of Diabetes Metabolism and Nutrition 3rd Faculty of Medicine Charles University Srobarova 50 100 34 Prague 10 Czech Republic

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