Contributor: Gordon K. Klintworth
Hemochromatosis type III (OMIM # 604250) is an inherited disease of iron metabolism characterized by increasing levels of iron absorption that lead to tissue damage in the pancreas, liver, heart, and pituitary gland. It is one of three inherited types of hemochromatosis and results from mutations in the TFR2 gene. The iron overload leads to an accumulation of iron in various tissues and the develop of clinically significant disease. The manifestations include cardiac disease, failure of endocrine glands (bronze diabetes, hypogonadism, hypopituitarism), liver disease (liver cirrhosis, hepatocellular carcinoma [carcinoma - hepatocellular]), arthropathy, and skin pigmentation. The differential diagnosis includes hemochromatosis type I, hemochromatosis type II, and the various conditions with iron overloading that cause secondary hemachromatosis [hemochromatosis - secondary].Treatment includes iron depletion by repeated phlebotomies.