TY - CHAP M1 - Book, Section TI - Hemochromatosis A1 - Powell, Lawrie W. A2 - Jameson, J. Larry A2 - Fauci, Anthony S. A2 - Kasper, Dennis L. A2 - Hauser, Stephen L. A2 - Longo, Dan L. A2 - Loscalzo, Joseph Y1 - 2018 N1 - T2 - Harrison's Principles of Internal Medicine, 20e AB - Hemochromatosis results from a relatively common inherited genetic mutation in European populations. Once thought to be a single disease entity it is now known to be an iron-storage disorder with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to an increase in intestinal iron absorption and the deposition of excessive amounts of iron in parenchymal cells with eventual tissue damage and organ failure. Thus, the term hemochromatosis now refers to a group of genetic diseases that predispose to iron overload, potentially leading to fibrosis and organ failure. Cirrhosis of the liver, diabetes mellitus, arthritis, cardiomyopathy, and hypogonadotropic hypogonadism are the major clinical manifestations. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1156564072 ER -