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...

Background: The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease. Methods: A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism. Results: Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulat...

Hereditary hemochromatosis is caused by mutations in the hereditary hemochromatosis protein (HFE), transferrin-receptor 2 (TfR2), hemojuvelin, hepcidin, or ferroportin genes. Hepcidin is a key iron regulator, which is secreted by the liver, and decreases serum iron levels by causing the down-regulation of the iron transporter, ferroportin. Mutations in either HFE or TfR2 lower hepcidin levels, ...

国際人間工学連合は人間工学（HFE；Human Factors and Ergonomics）のコア・コンピテンシーを改訂した．HFEの改訂コア・コンピテンシーの単位は7領域に集約・再整理され，システムズアプローチ視点がより強調される形となっている．改訂コア・コンピテンシーに基づき，今，社会の要請に応えるHFE専門家を育成するために必要と考えられるリサーチ・イシューとして，1）ステークホルダ関与に基づく解決策の提案，2）システムズアプローチに基づくシステム要素の調和，そして3）HFE主導による，あるべき近未来労働・生活様式ビジョンの策定，の3つのポイントを提案した．これらはHFEの世界的な動向を鑑み，国内のHFE研究者，実務者，専門家が今，学び，実践すべき重要なリサーチ・イシューである．

PURPOSE Hereditary hemochromatosis is an autosomal recessive disorder of iron overload leading to oxidative stress. Mutations in HFE are responsible for approximately 90% of cases of this disease. HFE is the principal regulator of iron homeostasis, and the process involves interaction with transferrin receptor (TfR)-1, transferrin receptor (TfR)-2, and beta2-microglobulin (beta2M). Expression o...

Hemochromatosis is caused by mutations in HFE, a protein that competes with transferrin (TF) for binding to transferrin receptor 1 (TFR1). We developed mutant mouse strains to gain insight into the role of the Hfe/Tfr1 complex in regulating iron homeostasis. We introduced mutations into a ubiquitously expressed Tfr1 transgene or the endogenous Tfr1 locus to promote or prevent the Hfe/Tfr1 inter...

HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C., Fullan, A., Hinton, L. M., Jones, N. L., Kimmel, B. E., Kronmal, G. S., Lauer, P., Lee, V. K., Loeb, D. B., Mapa, F. A., McClelland, E., Meyer, N. C., Mintier, ...

Background—Particulate air pollution has been associated with cardiovascular mortality and morbidity. Transition metals such as iron bound to the particles may be responsible for those associations. The protein product of the hemochromatosis (HFE) gene modulates uptake of iron and divalent cations from pulmonary sources and reduces their toxicity. Two HFE polymorphisms (C282Y and H63D) associat...

Abnormally low CD8+ T-lymphocyte numbers is characteristic of some patients with hereditary hemochromatosis (HH), a MHC-linked disorder of iron overload. Both environmental and genetic components are known to influence CD8+ T-lymphocyte homeostasis but the role of the HH associated protein HFE is still insufficiently understood. Genome-wide expression profiling was performed in peripheral blood...