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Browse result for Hemochromatosis
※ introduction Iron overload (also haemochromatosis (British English) or hemochromatosis (American English)) is the abnormal and increased accumulation of total iron in the body causing organ damage. Oxidative stress is the primary mediator of organ damage, as abnormally elevated intracellular iron levels increase free radical formation (via the Fenton reaction). Iron overload is often primary (i.e., hereditary haemochromatosis) but may also be secondary to repeated blood transfusions (i.e., transfusional iron overload). Iron deposition most commonly occurs in the liver, pancreas, skin, heart, and joints. People with iron overload, therefore, classically present with the triad of liver cirrhosis, secondary diabetes mellitus, and bronze skin. However, due to the earlier detection nowadays, symptoms are often limited to general chronic malaise, arthralgia, and hepatomegaly.
Reference
Wiki: Hemochromatosis
Reference
Wiki: Hemochromatosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD07290 | Q30201 | 3077 | HFE | Hereditary hemochromatosis protein | Homo sapiens |
| PTMD08614 | Q6ZVN8 | 14873 | HJV | Hemojuvelin | Homo sapiens |
| PTMD13196 | Q9NP59 | 30061 | SLC40A1 | Solute carrier family 40 member 1 | Homo sapiens |
| PTMD14521 | Q9UP52 | 7036 | TFR2 | Transferrin receptor protein 2 | Homo sapiens |
