HFE gene mutations in crypthogenic cirrhosis and HBV associated cirrhosis

Backround and aim: Mutations of HFE gene are associated with hereditary hemochomatosis (HH), the most common autosomal recessive disorder in European population. To early detection, population screening is not currently advocated because of the discrepancy betweenthe common mutation prevalence and apparently lower frequency of clinical disease. It is reasonable that screen high-risk patient populations for the abnormal mutation of HFE.We aimed to identify the frequency of mutations in the HFE gene in patients with cryptogenic cirrhosis and cirrhosis due to chronic hepatitis B.Matherial and method: In this study we analyzed 29 patients with hepatitis B cirrhosis and 29 patients with a diagnosis of cryptogenic cirrhosis. HFE gene mutation was analysed by the ?Haemoghromatosis StripAssay A of VıennaLab?.Resuts: Of the 29 cases of with cryptogenic cirrhosis, 1 was found to be heterozygous for the C282Y mutation , 2 were found to be homozygous for the H63D and 5 were found to be heterozygous for the H63D mutation. Of the 29 cases of hepatitis B cirrhosis, 1 was found to be compound heterozygous for the H63D and E168Q mutation and 5 were found to be heterozygous for H63D mutation. Mutation rates were not statistically different in patients with hepatitis B and cryptogenic cirrhosis. In a total H63D mutation was present in 13 out of 58 patients (22.4%) and C282Y mutation was present in 1 out of 58 patients(1.72%). According to the number of allel the rate of H63D mutation was 31.03% (9/29) among patients with cryptogenic cirrhosis.Conclusion: The prevalences of HFE gene mutations assiciated with HH are high among east-soutern of Anatolian cases with cryptogenic cirrhosis. Mutation of HFE gene may play role in worsen hepatic inflammation and progressing cirrhosis in our population.