RESUMO
Primary hemochromatosis is an inherited disorder. Mutation in this gene is accompanied with iron overload in the body leading to organ failure that primarily affects liver. Individuals with homozygote HFE gene mutation are prone to developing the end stage liver disease. Concomitance heterozygote HFE mutation with the other hepatic risk factors may accelerate hepatic damage, leading to cirrhosis. The aim of this study was to find out the spectrum and frequency of the HFE gene mutations in the liver transplantation [end-stage liver disease [ESLD]] candidate groups. Totally, 170 individuals were studied for HFE gene mutations including 87 ESLD patients with various etiologies from Division of Liver Transplant in Nemazee Hospital affiliated to Shiraz University of Medical Sciences. Seventy four randomly selected healthy blood donors were evaluated as the control group, and 9 hemochromatosis patients who referred to our lab for genetic analysis due to their high serum ferritin levels and clinical diagnosis were surveyed in a period of one year. HFE gene mutation was found in 57 [approx 33%], 14 [approx 9%], and 15 [approx 83%] chromatids of the ESLD group, control sample, and hemochromatosis patients, respectively. The allele frequency of H63D is about 0.085 among these people. The HFE mutation H63D in the ESLD is significantly higher than that of the control group [W/H63D: odds ratio 5.70, 95%Cl= 2.6-12.55; H63D/H63D: odds ratio 6.39, 95% Cl= 0.77-53.1]. In compliance with our previous report, the C282Y mutation is very uncommon in the southern population. This prevalence could be due to a significant aggravating effect of H63D for liver disease in these patients and may contribute to the poor liver transplantation outcome