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Atransferrinemia. Hereditary haemochromatosis type 1 ( HFE-related haemochromatosis) [ 3] is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. [ 4] Humans, like most animals, have no mechanism to regulate excess iron, simply losing a limited ...
Porphyria cutanea tarda is the most common subtype of porphyria. [ 1] The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs.
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.
Haemochromatosis type 3. Haemochromatosis type 3 is a type of iron overload disorder associated with deficiencies in transferrin receptor 2. It exhibits an autosomal recessive inheritance pattern. [2] [3] [4] The first confirmed case was diagnosed in 1865 by French doctor Trousseau. Later in 1889, the German doctor von Recklinghausen indicated ...
of or pertaining to hair Latin capillus, hair capillus: capit-pertaining to the head as a whole Latin caput, capit-, the head capitation, decapitation carcin-cancer: Greek καρκίνος (karkínos), crab carcinoma: cardi-of or pertaining to the heart: Greek καρδία (kardía), heart cardiology: carp-of or pertaining to the wrist
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] Iron-related traits of Hfe −/− mice, including increased iron absorption and hepatic iron loading, are ...
Juvenile hemochromatosis. 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. [ 1][ 2] It is characterized by an inability to control how much iron is absorbed by the body, in turn ...
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. While the majority of individuals with type 4 hemochromatosis have ...