Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population

Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil.

Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In...

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.

The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective...

Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

CONTEXT Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening. OBJECTIVE To estimate the prevalence of the HFE mutations C282Y and H63D in the US population. DESIGN Cross-sectional population-based study of samples in the DNA bank from phase 2 of the Third Nation...

Author’s Reply: HFE Gene Mutations (C282Y and H63D) in a Group of Patients With Cryptogenic Cirrhosis

I would like to thank Dr Sendi and Mohseni for their interest in our study.In this letter the authors have summarized the contributory effects of hereditary hemochromatosis (HH) in liver diseases in different populations (1). I completely agree with them concerning the underlying causes of cryptogenic cirrhosis which in countries such as Iran is most commonly nonalcoholic steatohepatitis (NASH)...

author’s reply: hfe gene mutations (c282y and h63d) in a group of patients with cryptogenic cirrhosis