Hemochromatosis

Hemochromatosis is a condition where the body absorbs too much iron from the diet, leading to excess iron buildup in various organs. This extra iron mainly affects the liver, heart, and pancreas, causing damage over time. The liver can become enlarged and scarred, which may lead to serious problems like cirrhosis or liver cancer. The heart may develop irregular rhythms or heart failure, and the pancreas can be damaged, resulting in diabetes. Symptoms often include fatigue, joint pain, and skin darkening. Early diagnosis is important to prevent long-term complications from iron overload.

Hemochromatosis is a genetic disorder characterized by excessive intestinal absorption of iron, leading to systemic iron overload and deposition in parenchymal tissues. The most common form is hereditary hemochromatosis caused by mutations in the HFE gene, particularly the C282Y mutation, which disrupts regulation of hepcidin, the key hormone controlling iron homeostasis. This results in increased iron absorption and progressive accumulation primarily in the liver, heart, and endocrine glands. Clinically, it manifests with hepatomegaly, arthropathy, diabetes mellitus, and cardiomyopathy. If untreated, it can cause cirrhosis, hepatic carcinoma, and heart failure. Diagnosis relies on biochemical evidence of iron overload and genetic testing. Early recognition and management are critical to prevent irreversible organ damage.