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Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
The prevalence in the ethnic Norwegian population of homozygous and heterozygous inheritance is 0.8% and 12-15% respectively, which makes haemochromatosis one of the most common hereditary diseases in Norway. [5] Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about 1 million people.
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.
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.
Juvenile hemochromatosis, also known as hemochromatosis type 2, is a rare form of hereditary hemochromatosis, which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later.
Homozygous H63D variant can occasionally be the cause of hemochromatosis. It is also associated with the occurrence of other conditions like hypotransferrinemia , [ 4 ] [ 5 ] liver dysfunction, [ 6 ] [ 7 ] bone and joint issues, diabetes mellitus , heart disease, hormone imbalances, porphyria cutanea tarda (PCT), infertility , stroke, [ 8 ...
The iron storage disorder hereditary hemochromatosis (HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene. The disease-causing genetic variant most commonly associated with hemochromatosis is p. C282Y. [14]
Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis.