UNLABELLED The evidence that mutations in the HFE gene for hemochromatosis are associated with increased cancer risk is inconsistent. The Melbourne Collaborative Cohort Study is a prospective cohort study that commenced recruitment in 1990. Participants born in Australia, New Zealand, the United Kingdom, or Ireland (n = 28,509) were genotyped for the HFE C282Y (substitution of tyrosine for cyst...

Aim The aim of this article is to assess HFE C282Y gene mutations as a predictor of sustained virological response (SVR) to anti-hepatitis C virus (HCV) treatment in Egyptian patients. Materials and methods One hundred and forty chronic hepatitis C (CHC) patients were divided into two groups: 70 patients achieved SVR and 70 patients were nonresponders (NRs). All patients were subjected to qua...

Background: Previous studies have suggested a positive association of coronary heart disease (CHD) risk and both serum ferritin concentrations and C282Y heterozygosity. Relationships between serum lipids, C282Y homozygosity and serum ferritin have not been well established. Methods and Results: The HEIRS Study screened 101,168 participants in primary care from 5 field centers in the US and Cana...

BACKGROUND We identified no reports of long-term follow-up of participants in hemochromatosis screening programs. We evaluated causes of death and survival in non-C282Y homozygous Canadian participants in the primary care-based hemochromatosis and iron overload screening (HEIRS) study. MATERIAL AND METHODS Initial screening (IS) included transferrin saturation (TS), serum ferritin (SF), HFE g...

To identify a new marker of expression of disease, independent of HFE genotype in patients with hereditary haemochromatosis (HHC), the total peripheral blood lymphocyte counts were analysed according to iron status in two groups of subjects with HFE mutations. The groups consisted of 38 homozygotes for C282Y, and 107 heterozygotes for the C282Y or compound heterozygotes for C282Y and H63D. For ...

BACKGROUND Previous studies have suggested a positive association of coronary heart disease risk and both serum ferritin concentrations and C282Y heterozygosity. Relationships between serum lipids, C282Y homozygosity, and serum ferritin have not been well established. METHODS AND RESULTS The Hemochromatosis and Iron Overload Screening study screened 101 168 participants in primary care from 5...

Inadequate hepcidin synthesis leads to iron overload in HFE-hemochromatosis. We explored the regulation of hepcidin by iron in 88 hemochromatosis patients (61 C282Y/C282Y, 27 C282Y/H63D) and 23 healthy controls by analyzing urinary hepcidin before and 24 hours after a 65mg oral iron dose. Thirty-four patients were studied at diagnosis and had iron overload, and 54 patients were iron-depleted. A...

BACKGROUND/AIMS The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete inform...

BACKGROUND Most patients with haemochromatosis have mutations of the HFE gene. However, the risk to people with HFE mutations of developing disease manifestations of haemochromatosis is not known. AIMS To determine the risk of developing cirrhosis and liver cancer in individuals with HFE mutations in a population where few people were being treated for haemochromatosis. METHODS 215 archive ...

BACKGROUND Hereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim...