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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. HFE (gene) - Wikipedia

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

    The disease-causing genetic variant most commonly associated with hemochromatosis is p. C282Y. [ 14 ] About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males, are at high risk of developing hemochromatosis. [ 15 ]

  5. US FDA approves Ionis Pharma's genetic disorder drug - AOL

    www.aol.com/news/us-fda-approves-ionis-pharmas...

    (Reuters) -The U.S. Food and Drug Administration has approved Ionis Pharmaceuticals' drug to treat a rare genetic disorder, ... Why the 74-year-old beagle is more popular than ever. Sports. Sports.

  6. Iron overload - Wikipedia

    en.wikipedia.org/wiki/Iron_overload

    The term hemochromatosis was initially used to refer to what is now more specifically called hemochromatosis type 1 (or HFE-related hereditary hemochromatosis). Currently, hemochromatosis (without further specification) is mostly defined as iron overload with a hereditary or primary cause, [11] [12] or originating from a metabolic disorder. [13]

  7. Pregnant Woman Discovers Lump in Breast While Applying Body ...

    www.aol.com/woman-discovers-cancerous-lump-9...

    Sweitzer was officially diagnosed with stage 2B triple-negative, grade three, invasive, ductal carcinoma in her breast and her lymph nodes. But she also felt lucky. But she also felt lucky.

  8. What is the 2024 Oxford Word of the Year? - AOL

    www.aol.com/2024-oxford-word-124548327.html

    The Oxford Word of the Year for 2023 was rizz, understood as short for "charisma" Natalie Neysa Alund is a senior reporter for USA TODAY. Reach her at nalund@usatoday.com and follow her on X ...

  9. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

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