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  2. HFE H63D gene mutation - Wikipedia

    en.wikipedia.org/wiki/HFE_H63D_gene_mutation

    The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. [1] [2] [3] Homozygous H63D variant can occasionally be the cause of ...

  3. Hereditary haemochromatosis - Wikipedia

    en.wikipedia.org/wiki/Hereditary_haemochromatosis

    There are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 [9] and 5, [10] all caused by mutated genes. Hereditary hemochromatosis type 1 is the most frequent, and uniquely related to the HFE gene. It is most common among those of Northern European ancestry, in particular those of Celtic descent. [11]

  4. Hemochromatosis type 4 - Wikipedia

    en.wikipedia.org/wiki/Hemochromatosis_type_4

    Hemochromatosis type 4 is a hereditary iron overload disorder that affects ferroportin, an iron transport protein needed to export iron from cells into circulation. [1] Although the disease is rare, it is found throughout the world and affects people from various ethnic groups.

  5. HFE (gene) - Wikipedia

    en.wikipedia.org/wiki/HFE_(gene)

    Such mice are called “knockouts” with respect to the deleted gene. Hfe is the mouse equivalent of the human hemochromatosis gene HFE. The protein encoded by HFE is Hfe. Mice homozygous (two abnormal gene copies) for a targeted knockout of all six transcribed Hfe exons are designated Hfe−/−. [29]

  6. Iron overload - Wikipedia

    en.wikipedia.org/wiki/Iron_overload

    Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.

  7. Iron metabolism disorder - Wikipedia

    en.wikipedia.org/wiki/Iron_metabolism_disorder

    [1] Hepcidin is the master regulator of iron metabolism and, therefore, most genetic forms of iron overload can be thought of as relative hepcidin deficiency in one way or another. For instance, a severe form of iron overload, juvenile hemochromatosis, is a result of severe hepcidin deficiency.

  8. How a gene test could be the first step toward precision ...

    www.aol.com/news/gene-test-could-first-step...

    One of the big mysteries with popular GLP-1 medications for weight loss is why some people will lose 20% or more of their starting body weight on the drugs while for others, the scale will barely ...

  9. Haemochromatosis type 3 - Wikipedia

    en.wikipedia.org/wiki/Haemochromatosis_type_3

    The gene involved with patients diagnosed with type 3 hemochromatosis is TFR2 ( or HFE3). HFE (not the same as HFE3) is most often the cause of hereditary hemochromatosis. [14] The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells.