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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07290Q302013077
HFE
Hereditary hemochromatosis protein
Homo sapiens
PTMD08614Q6ZVN814873
HJV
Hemojuvelin
Homo sapiens
PTMD13196Q9NP5930061
SLC40A1
Solute carrier family 40 member 1
Homo sapiens
PTMD14521Q9UP527036
TFR2
Transferrin receptor protein 2
Homo sapiens