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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.
Some evidence suggests that hereditary haemochromatosis patients affected with other liver ailments such as hepatitis or alcoholic liver disease have worse liver disease than those with either condition alone. Also, juvenile form of primary haemochromatosis (Hemochromatosis type 2) present in childhood with the same consequences of iron overload.
The gene involved with patients diagnosed with type 3 hemochromatosis is TFR2 ( or HFE3). HFE (not the same as HFE3) is most often the cause of hereditary hemochromatosis. [14] The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells.
Hereditary diseases that cause damage to the liver include hemochromatosis, [10] involving accumulation of iron in the body, and Wilson's disease. Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency [11] and glycogen storage disease type II. [12]
Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests that it may be alloimmune condition. Its characteristics are similar to hereditary hemochromatosis , where iron deposition causes damage to the liver and other organs and tissues.
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.
Dr. Frances Lee — a hepatologist (liver doctor) who specializes in alcohol-related liver disease at Mount Sinai Health Systems in New York City — is not affiliated with any of the lab ...
Hemosiderin deposition in the liver is a common feature of hemochromatosis and is the cause of liver failure in the disease. Selective iron deposition in the beta cells of pancreatic islets leads to diabetes [ 4 ] [ 2 ] due to the distribution of transferrin receptor on the beta cells of islets [ 3 ] and in the skin leads to hyperpigmentation.