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 ?
The homozygous mutations in HFE gene have a low penetrance and acquired genetic or environmental factors, such as iron therapy, are required to cause iron overload19.
Keywords: C282Y mutation, Ferritin, Hemochromatosis, HFE gene, Iron overload.
Hereditary hemochromatosis (HH) is a rare disorder related to mutations in the HFE gene (1).
Iron overload may be genetic, caused by C282Y/C282Y homozygosity in the HFE gene, or secondary, e.g., as part of blood transfusion syndrome (6).
Hereditary hemochromatosis due to homozygous C282Y mutations in the HFE gene is a well-known cause of inherited iron overload syndrome.
Mutations in the HFE gene, namely C282Y and H63D, lead to the disruption of this function, and subsequently, to the decreased level of hepcidin and increased GI iron absorption.
In their case, a novel pathogenic missense mutation of the HFE gene, R6S, was discovered in the recipient.
Type III PCT is similar to Type II with respect to familial occurrence, but erythrocyte UROD activity is normal.[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.[sup][3] There are several suggested mechanisms of the role of alcohol in PCT.
HFE hemochromatosis occurs as an autosomal recessive trait [11, 12] in 0.3-0.6% of whites of European descent [1315] that is due to homozygosity for p.C282Y of the HFE gene (chromosome 6p21.3) [13].
Hemochromatosis, a common genetic disorder in Caucasians, is the result of a mutation in the HFE gene that causes iron to be absorbed in excess.
When a mutant or nonfunctional variant of the HFE gene is present, ferritin levels are not under influence of a normal and functional HFE gene, which leads to enhanced accumulation of iron in peripheral tissues.
The subjects were examined towards mutation of HFE gene in a hospital hematology unit.