Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?
As it is not clear whether mutations in hemochromatosis gene (HFE) and hepatitis C virus (HCV) act independently in the pathogenesis of porphyria cutanea tarda (PCT), and prevalence of both risk factors reveals a great variety in different parts of the world, PCT patients from our Central East European country were investigated for this aspect. The occurrence of the C282Y and H63D mutations in HFE gene were determined in 19 PCT patients and compared with the reported control frequencies. Furthermore, the presence of HCV infection was determined and related to the patients’ HFE status. The C282Y mutation was found in 3/19 cases (one patient was homozygous and two heterozygous), with an 10.5% allele frequency (vs. 3.8% control) (p < 0.05). Five patients were heterozygous for the H63D mutation, allele frequency 13.1%, which did not differ from the reported control prevalence of 12.3%. Six patients (31.7%) were HCV-RNA positive, out of the six one was heterozygous for H63D mutation and one
