Frequency of Two Common HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis

Abstract

Background: The human HFE gene (a key component of iron homeostasis in humans) is involved in hereditary hemochromatosis, a common autosomal recessive genetic disorder that is characterized by excessive intestinal iron absorption and progressive iron overload.

Objectives: In this study, we assessed the frequency of two common forms of hemochromatosis HFE gene mutation (C282Y and H63D) in patients suffering from cryptogenic cirrhosis.

Patients and methods: One hundred and fifty individuals were included in this study, in which 100 were patients with cryptogenic cirrhosis and 50 were from the normal population. All individuals were examined for common HFE gene mutations by amplification of nucleotide 845 C282Y and 187 H63D alleles and product analysis using the polymerase chain reaction method and restriction enzyme digestion.

Results: No case of either a homozygous or heterozygous C282Y mutation was found. For the H63D mutation, no homozygosity was detected but heterozygosity was detected in 22% of patients and in 28% of the normal population.

Conclusions: Hereditary hemochromatosis is not a major cause of cryptogenic cirrhosis in the Iranian population.

Keywords: Genes; Iran; Liver Cirrhosis; Mutation.

Figure 1

The PCR of the Results of Normal and Heterozygote Patients. Lanes 1, 2, 3, and 4: Normal C282Y before and after enzyme igestion in 2 patients; Lane 5: Negative Control; Lane 6: 0-bp ladder; Lanes 7 and 8: H63D before and after enzyme igestion in a normal patient; Lanes 9 and 10: H63D efore and after enzyme digestion in a heterozygote patient; ane 11: 50-bp ladder.