Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

The current study aimed at determining the prevalence of C282Y and H63D HFE mutations among chronic HCV patients, and to find whether elevation of serum iron indices is related to HFE gene mutations in patients with chronic hepatitis C. The study population was 80 chronic HCV patients divided into two groups: Group I; 40 patients with serum iron overload; and group II; 40 patients without iron overload. The C282Y mutation was not found in any of the 80 patients, while the H63D mutation was present in 18.5% of the entire study sample. All of the mutant cases were heterozygous, with no homozygous cases. Comparing the two studied groups; H63D mutation was found in 20% of the iron overload group and 17.5% of the non-iron overload group. Statistically there was no significant difference between the two study groups (P>0.05). Regarding iron studies, results of the current study revealed no significant difference between chronic HCV patients with iron overload and those with normal iron profile regarding any of the HFE mutations where our positive mutation H63D heterozygosity was found in 17.5% of iron overload group and 18.7% of non-iron overload group (P>0.05). Also, when dividing our patients into two groups according to H63D mutation; namely wild group (n=65) and mutant group (n=15), statistical comparison of serum iron indices between those two groups showed non-significant difference (P>0.05)

Issued also as CD