Master Hemochromatosis Signs and Symptoms with Picmonic for Medicine

Hemochromatosis is a disease characterized by excessive accumulation of iron in the body, most of which becomes deposited in organs such as the liver, pancreas, joints and heart. Primary hemochromatosis is an autosomal recessive disorder caused by a gene mutation on chromosome 6 that causes excessive iron absorption. Accumulation of iron in tissues can also occur as a consequence of parenteral administration of iron, often secondary to multiple transfusion therapies. In primary hemochromatosis, the regulation of intestinal absorption of dietary iron is highly abnormal, leading to net iron accumulation of 0.5 to 1.0 gm/year. The increase in iron causes increase in ferritin stores as well as a decrease in transferrin. Excessive iron accumulation is directly toxic to host tissue due to formation of reactive oxygen species and stimulation of collagen formation. In the liver, the excessive iron accumulation can lead to lethal cell injury with predisposition for micronodular cirrhosis and hepatocellular carcinoma. Deposition of hemosiderin in the pancreas can cause diabetes and deposition in the skin can cause bronze skin discoloration. The heart, joints, and testes are also commonly affected leading to congestive heart failure, arthropathy, and testicular atrophy causing impotence.