Indeed, when the iron content of liver biopsies from HCV-infected patients was measured, there was only a real increase in hepatic iron in 10% of the cases, despite a rise in serum ferritin and transferrin saturation.8 It should be pointed out that cytolysis could have led to the increase in both serum ferritin and transferrin saturation. In conclusion, it is unlikely that the C282Y mutation of...

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...

Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clini...

BACKGROUND Nonalcoholic steatohepatitis is a chronic liver disease with a high prevalence in the general population and a potential to evolve into cirrhosis. It is speculated that iron overload could be associated with liver injury and unfavorable progress in affected patients. AIMS To evaluate the prevalence of mutation of the hemochromatosis gene (HFE) in patients with nonalcoholic steatohe...

BACKGROUND AND OBJECTIVES Iron deficiency anemia is a common manifestation of celiac disease, which may be due to genetic and environmental factors. HFE mutations, frequent in Caucasian populations, can cause increased intestinal iron absorption and thus could protect against the development of iron deficiency. The aim of this study was to evaluate the prevalence of HFE mutations and their effe...

BACKGROUND The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis (C282Y, H63D and S65C) in blood donors from Sao Paulo, Brazil. METHODS We examined 400 b...

OBJECTIVE To examine the relationship between iron status, hereditary hemochromatosis (HFE) gene mutations, and clinical features and outcomes of type 2 diabetes in a well-characterized representative sample of community-based patients. RESEARCH DESIGN AND METHODS HFE genotype data were available for 1,245 type 2 diabetic patients from the longitudinal observational Fremantle Diabetes Study (...