HFE gene

HFE gene

A gene on the short arm of chromosome 6 close to the HLA class I loci of the human major histocompatibility complex (MHC). Mutations of the HFE gene are common and give rise to hereditary HAEMOCHROMATOSIS.
References in periodicals archive ?
sup][1] The risk factors for PCT include iron overload, alcohol intake, smoking, estrogen use, chemical materials such as polychlorinated hydrocarbons, human immunodeficiency virus and hepatitis C infection, mutations in HFE gene, and various liver diseases.
Porphyria cutanea tarda,hepatitis C and HFE gene mutations in North America.
Mutations in the HFE gene and cardiovascular disease risk: an individual patient data meta-analysis of 53880 subjects.
It is caused by mutations in the HFE gene (C282Y or H63D) located on chromosome 6 (locus 6p21) and commonly seen in Northern European Caucasians.
The HFE gene is located near the human leukocyte antigen locus on chromosome 6, (13) and more than 90% of the patients with this disease possess the C282Y mutation of this gene.
Effects of HFE gene mutations and alcohol on iron status, liver biochemistry and morbidity.
Roughly 10 to 12 percent of the population inherits one mutation of the HFE gene called C282Y, which can lead to extra iron absorption.
Mutations of the HFE gene are found in nearly 90% of patients with clinical hemochromatosis, most of whom are homozygous (2).
Two major mutations are known in the HFE gene, C282Y and H63D.
Mutations in the HFE gene may alter the iron absorption and cause hemochromatosis phenotype.
The most common form of hemochromatosis (type I) is caused by loss-of-function mutations in the HFE gene, which encodes a nonclassical major histocompatibility class I-type molecule, and is inherited in an autosomal recessive pattern.
The diagnosis of HH can readily be confirmed by serum studies (including serum iron, TIBC and especially ferritin) and genetic testing of the HFE gene (which accounts for 85% of cases of HH).