Hemochromatosis

An inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas.

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A disorder of iron metabolism characterized by excessive absorption of ingested iron, saturation of iron-binding protein, and deposition of hemosiderin in tissue, particularly in the liver, pancreas, and skin; cirrhosis of the liver, diabetes (bronze diabetes), bronze pigmentation of the skin, and, eventually heart failure may occur; also can result from administration of large amounts of iron orally, by injection, or in forms of blood transfusion therapy. [hemo- + G. chroma, color, + -osis, condition]

- exogenous h. hemosiderosis due to repeated blood transfusions; it can progress to pigmentary cirrhosis.

- primary h. [MIM*235200] a specific inherited metabolic defect with increased absorption and accumulation of iron on a normal diet; autosomal recessive inheritance caused by a mutation in the h. gene (HFE) on 6p, less florid in females; juvenile h. may represent a homozygous state of the same gene.

- secondary h. increased intake and accumulation of iron secondary to known cause, such as oral iron therapy or multiple transfusions.

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he·mo·chro·ma·to·sis or chiefly Brit hae·mo·chro·ma·to·sis .hē-mə-.krō-mə-'tō-səs n, pl -to·ses -.sēz a hereditary disorder of metabolism that involves the deposition of iron-containing pigments in the tissues, is characterized esp. by joint or abdominal pain, weakness, and fatigue, may lead to bronzing of the skin, arthritis, diabetes, cirrhosis, or heart disease if untreated, and typically affects men more often than women compare HEMOSIDEROSIS

he·mo·chro·ma·tot·ic or chiefly Brit hae·mo·chro·ma·tot·ic -'tät-ik adj

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he·mo·chro·ma·to·sis (he″mo-kro″mə-toґsis) [hemo- + chromatosis] a syndrome of organ damage resulting from accumulation of iron in the tissues, causing damage and dysfunction of the liver, pancreas, heart, joints, and endocrine organs, and leading to organ failure. Classic clinical signs include bronze pigmentation of skin, arthropathy, diabetes mellitus, cirrhosis, hepatosplenomegaly, hypogonadism, and loss of body hair. Full development of the condition among women is restricted by menstruation and pregnancy. Cf. hemosiderosis and siderosis. hemochromatotic adj

Hemochromatosis.