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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 ...
One of the better-characterized genes responsible for hereditary haemochromatosis is HFE [26] on chromosome 6, which codes for a transmembrane protein involved in the induction of hepcidin expression upon high iron load. The HFE gene has three often observed genetic variants: [27] [28] rs1799945, c.187C>G, p.His63Asp (H63D); rs1800562, c.845G>A, p.
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.
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.
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
The first step is eliminating processed foods, which are high in salt and fat, and eat more whole fresh foods like fruits and vegetables, says Dr. Nieca Goldberg, a cardiologist, clinical ...
Strimvelis: treatment for adenosine deaminase deficiency (ADA-SCID) Talimogene laherparepvec (Imlygic): treatment for melanoma in patients who have recurring skin lesions [17] Tisagenlecleucel (Kymriah): treatment for B cell lymphoblastic leukemia [18] Valoctocogene roxaparvovec (Roctavian): treatment for hemophilia A [19] [20] [21]
Rich in fiber, vitamins and minerals, such as magnesium, copper and manganese, nuts provide another great plant-based protein source. Eating walnuts, in particular, can help reduce blood pressure ...