RT Book, Section A1 Jameson, J. Larry A1 Fauci, Anthony S. A1 Kasper, Dennis L. A1 Hauser, Stephen L. A1 Longo, Dan L. A1 Loscalzo, Joseph SR Print(0) ID 1167068892 T1 Hemochromatosis, Porphyrias, and Wilson’s Disease T2 Harrison's Manual of Medicine, 20e YR 2020 FD 2020 PB McGraw-Hill Education PP New York, NY SN 9781260455342 LK accessmedicine.mhmedical.com/content.aspx?aid=1167068892 RD 2024/03/28 AB Hemochromatosis is a disorder of iron storage that results in increased intestinal iron absorption with Fe deposition and damage to many tissues. The classic clinical constellation of hemochromatosis is a pt presenting with bronze skin, liver disease, diabetes, arthropathy, cardiac conduction abnormalities, and hypogonadism. Two major causes of hemochromatosis exist: hereditary (due to inheritance of mutant HFE genes) and secondary iron overload (usually the result of ineffective erythropoiesis, such as thalassemia or sideroblastic anemia). HFE encodes a protein that is involved in cellular iron sensing and in regulating intestinal iron absorption. HFE mutations are very common in populations of Northern European origin (1 in 10 is a carrier). Heterozygotes are asymptomatic; homozygotes show a disease penetrance of ∼30%. There is progressive iron overload, with clinical manifestations appearing after age 30–40, typically earlier in men than in women. Alcoholic liver disease and chronic excessive Fe ingestion may also be associated with a moderate increase in hepatic Fe and elevated body Fe stores.