In this study, we report on a 6-year survey of HFE gene test– based diagnosis of hemochromatosis. The pos- itive tests confirming hemochromatosis were 89.7% in indi- viduals diagnosed before HFE gene testing and around 30% among the individuals subjected to HFE gene test for hemo- chromato...
The discovery of the HFE gene and the frequency of the single C282Y mutation as a cause of most cases of hereditary hemochromatosis allow the possibility of widespread genetic testing. However, the logistics, and the psychological and social consequence of this, coupled with incomplete expression ...
An increased prevalence of certain types of malignancy has been reported in putative hemochromatosis heterozygotes characterized by iron phenotype criteria or family studies [1–4]. However, discovery of theHFEgene on Ch6p and two common hemochromatosis-associatedHFEmissense mutations C282Y (exon 4; n...
Among eighty-eight possible AH loci, 11.36% of SNPs (n = 10) were located in conservative nucleotide DNA sequences, 56.81% (n = 50) were placed in introns, 5.68% (n = 5) were localized in five gene exons such as COX14/LASS5, PRRC2A, HFE, RGL (non-synonymous variants), GPD1 ...