Screening of the HFE Gene Mutations in Turkish Patients with Cryptogenic Cirrhosis and Hemochromatosis

Objective: The aim of this study was to determine the prevalence of the HFE gene mutations (C282Y, S65C and H63D) in patients with cryptogenic cirrhosis, hemochromatosis and healthy controls. Material and Methods: The exon 2 and exon 4 of the HFE gene were amplified by polymerase chain reaction (PCR) in the DNA samples of 18 cryptogenic cirrhotic and 11 hemochromatosis patients, and 141 healthy control individuals. Then the restriction fragment length polymorphism (RFLP) method was used to detect the mutations. Results: The frequencies of C282Y, S65C and H63D mutations were found as 0.0, 0.0, 0.12 respectively in healthy Turkish population and 0.0, 0.0, and 0.11 respectively in cryptogenic cirrhotic patients. We also screened 11 hemochromatosis patients for these mutations, and the frequencies of the mutations were found as 0.0 for C282Y, 0.0 for S65C, and 0.27 for H63D mutation. There was no difference between the control group and cryptogenic cirrhosis group. However, we found differences in the frequency of the H63D mutation between the control group and hemochromatosis group. Conclusion: The frequencies of the C282Y and S65C mutations were found as 0.0 in Turkish population and in the patients with cryptogenic cirrhosis similar to other Asian populations. However, the frequency of the H63D mutation was higher than previously reported in Asian populations. These results suggest that the H63D mutation may be responsible for the hereditary hemochromatosis in Turkish population.