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  1. Hereditary hemochromatosis
    • According to 2 sources
    A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents.
    The gene that causes hereditary hemochromatosis, called HFE, was identified on chromosome 6 in 1996. Most cases of HH result from a common mutation in this gene, known as C282Y. But other mutations that cause this disease have also been identified, including one known as H63D.
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    HFE (gene) - Wikipedia

    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 See more

    The protein encoded by this gene is an integral membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate circulating … See more

    The HFE protein interacts with the transferrin receptor TFRC. Its primary mode of action is the regulation of the iron storage hormone See more

    The black rhinoceros (Diceros bicornis) can develop iron overload. To determine whether the HFE gene of black rhinoceroses has … See more

    • Dorak MT, Burnett AK, Worwood M (March 2002). "Hemochromatosis gene in leukemia and lymphoma". Leukemia & Lymphoma. 43 (3): … See more

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    The iron storage disorder hereditary hemochromatosis (HHC) is an autosomal recessive genetic disorder that usually results from defects … See more

    It is possible to delete part or all of a gene of interest in mice (or other experimental animals) as a means of studying function of the gene and its protein. Such mice are called “knockouts” with respect to the deleted gene. Hfe is the mouse equivalent of the human … See more

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  4. Hereditary Hemochromatosis: Rapid Evidence Review | AAFP

  5. About Hereditary Hemochromatosis - CDC

    May 15, 2024 · 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 …

  6. HFE-Related Hemochromatosis - GeneReviews®

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

  7. HFE and other hemochromatosis genes - UpToDate

  8. Hemochromatosis - Symptoms and causes - Mayo Clinic

    Jan 6, 2023 · A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D.

  9. HFE gene - MedlinePlus

    The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. Learn about this gene and related health conditions.

  10. HFE gene: Structure, function, mutations, and associated iron ...

  11. Hemochromatosis gene: Definition, signs, and is it …

    Jan 26, 2022 · 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.

  12. Hereditary haemochromatosis - Wikipedia