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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 ...
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]
Type 4 hemochromatosis is caused by mutations of the SLC40A1 gene, located on the long arm of chromosome 2, specifically at 2q32.2. The SLC40A1 gene encodes ferroportin, a protein responsible for exporting iron from cells in the intestine, liver, spleen, and kidney, as well as from reticuloendothelial macrophages and the placenta. [6] [7] More ...
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.
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]
A PCR test at a doctor’s office or laboratory has a better chance of picking up low concentrations of the virus, so a negative PCR test might be more reliable. “But again, there’s no such ...
Hyundai Motor North America announced it will recall more than 42,000 vehicles due to a wiring issue that can cause the automobiles to roll away, according to a notice issued by the National ...
Investigators are trying to determine how a woman got past multiple security checkpoints this week at New York’s JFK International Airport and boarded a plane to Paris, apparently hiding in the ...