Hemochromatosis

Hereditary hemochromatosis is an autosomal recessive iron overload disorder most commonly caused by C282Y homozygous mutation in the HFE gene, which disrupts hepcidin regulation. Hepcidin, produced by the liver, normally binds to ferroportin on enterocytes and macrophages to limit iron absorption and release; HFE mutations reduce hepcidin expression, causing uninhibited intestinal iron absorption of 3-4 mg/day (versus normal 1 mg/day). Over decades, excess iron deposits in parenchymal cells as hemosiderin, generating hydroxyl free radicals through Fenton chemistry that cause oxidative damage, lipid peroxidation, organelle dysfunction, and fibrosis. Target organs include the liver (cirrhosis, hepatocellular carcinoma risk), pancreas (bronze diabetes from beta-cell destruction), heart (dilated cardiomyopathy, arrhythmias), joints (calcium pyrophosphate deposition), pituitary (hypogonadism), and skin (bronzing). The nurse monitors serum ferritin (target less than 50 ng/mL) and transferrin saturation, assists with and monitors therapeutic phlebotomy (removal of 500 mL blood weekly until iron depleted, then maintenance every 2-4 months), monitors liver function, screens family members, and educates patients about dietary modifications (avoid iron supplements, vitamin C with meals, raw shellfish due to Vibrio vulnificus risk).