Hemochromatosis and Ferroportin Disease (Type 4 Hemochromatosis)
Hemochromatosis is a group of hereditary disorders characterized by excessive absorption and accumulation of iron. The body absorbs more iron from food and water than it needs, and because humans have no effective physiological mechanism for actively excreting excess iron, the surplus gradually accumulates in tissues and organs. Over time, this iron overload can cause progressive damage to multiple organ systems, particularly the liver, heart, pancreas, joints, skin, and endocrine glands. If left untreated, iron deposition may result in cirrhosis, diabetes mellitus, cardiomyopathy, hormonal disorders, arthritis, and other serious complications. Normal Iron Regulation Iron balance is tightly controlled by the hormone hepcidin , which is produced by the liver. Hepcidin regulates the activity of ferroportin , the body's primary iron-export protein found on intestinal cells, macrophages, hepatocytes, and placental cells. Under normal circumstances: Ferroportin exports iron from...