Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Medical Biochemistry

Aim of the work: The aim of this work is to assess the value of HFE (C282Y) gene mutations as a predictor of virological response to Pegylated interferon plus ribavirin in treatment of Egyptian patients with chronic hepatitis C virus infection.Methods: One handered and forty CHC patient were treated by pegylated interferon (IFN) Ü2a and Ü2b plus ribavirin for 48 weeks, quantitative PCR at week 12th and qualitative PCR at week 24th and 48th will be done for all patients who were divided into 2 groups as: GROUP (1): Patients with end of treatment virological response (ETR),GROUP (2): 70 patients with non virological response subjected to Anti HCV Ab, Baseline HCV RNA, Qualitative HCV RNA PCR at week 12 and quantitative HCV RNA PCR at weeks 24, 48 and 72 weeks after treatment , DNA sequencing. and Molecular study for HFE (C282Y) by RFLP PCR. Result: HFE gene mutation (C282Y) was detected in 54 patient (38.5%) and the presence of c282y mutation was significantly associated with elevated iron parameter (TS (p value <,001), S iron (p value ,02), TIBC (p value<.,001), transferrin (p value ,016) and sTfR ( p value ,001) but no significant difference as regard ferritin(p value ,76) and c282y mutation present frequently in non response group; 65 of 70 patient (92,9%) of response group have gene without mutation(GG) and only 5 patient(7%) carry c282y mutation (GA), while 45 of 70 (64,3%) of non responders carry heterozygous c282y mutation (GA), 4 patient (5,7%) carry homozygous mutation(AA) and 21 patient (30%) are without mutation (GG) , there was a statistically significant difference between groups as regard HB with p value 0.027 In conclusion, Iron overload was frequenty detected in CHC patient and associated with c282y mutation ,Biochemical markers of iron overload and c282y HFE mutation were negative prognostic factor for treatment of CHC by interferon and ribavirin

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