Hereditary hemochromatosis is most commonly caused by certain changes in a specific gene, called the HFE gene. If you inherit two of these genetic changes (mutations), one from each parent, you have hereditary hemochromatosis and are at risk for developing high iron levels.

Human homeostatic iron regulator protein, also known as the HFE protein (High FE2+), is a transmembrane protein that in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p22.2 [5]

2000年4月3日 · HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells.

HFE, the hemochromatosis gene, is linked to the major histocompatibility complex on chromosome 6p. HFE encodes HFE, an extracellular protein that binds beta-2 microglobulin. HFE is a positive upstream regulator of hepcidin. Common HFE mutations account for most hemochromatosis cases

2025年1月9日 · Hemochromatosis (he-moe-kroe-muh-TOE-sis) is a condition that causes the body to absorb too much iron from food. Excess iron is stored in the organs, especially the liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.

Hereditary hemochromatosis is an autosomal recessive disorder that disrupts iron homeostasis, resulting in systemic iron overload. It is the most common inherited disorder...

Hereditary haemochromatosis type 1 (HFE-related haemochromatosis) [3] is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. [4]

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the …

Hereditary hemochromatosis is a genetic disorder characterized by excessive iron (Fe) accumulation that results in tissue damage. Manifestations can include systemic symptoms, liver disorders, cardiomyopathy, diabetes, erectile dysfunction, and arthropathy.

2022年1月26日 · The hemochromatosis gene, known as HFE, helps regulate the body’s absorption of iron. Some people can inherit a mutation to this gene that causes their bodies to absorb too much iron.