objective: The aim of this study was to assess the value of human hemochromatosis protein also known as the HFE protein (C282Y) gene mutations as a predictor of virological response to pegylated interferon plus ribavirin in the treatment of Egyptian patients with chronic hepatitis C virus infection.
Patients and Methods: One hundred and forty chronic hepatitis C (CHC) patients were treated with pegylated interferon (IFN) α2a and α2b plus ribavirin for 48 weeks. PCR for HCV at weeks 12, 24, 48 and 72 was performed for all patients to assess response to treatment. Patients were accordingly divided into 2 groups: group 1: 70 patients with a virological response at the end of treatment (ETR); group 2: 70 patients without virological response. The HFE gene mutation (C282Y) was studied by restriction fragment length polymorphism- polymerase chain reaction (RFLP PCR) in CHC patients from both groups. Results: HFE gene mutations (C282Y) were detected in (38.5%) 54 patients and the presence of (C282Y) mutations were significantly associated with abnormal iron parameters. Transferrin saturation and serum ferritin were significantly higher in patients carrying AA and GA genotypes compared to GG wild genotype. We found that failure of response to interferon in CHC patients was significantly associated with the presence of AA and GA genotype HFE gene mutations (<0.001). The odd ratio for AA and GA genotypes (95% CI) was 30.33 (10.68-86.11).