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February 13, 2006

Screening for Hemochromatosis

Arch Intern Med. 2006;166(3):269-270. doi:10.1001/archinte.166.3.269

Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism occurring in approximately 1 in 200 to 250 individuals of northern European descent.1 This makes HH the most common inherited disorder seen in whites. Most cases of HH are caused by a single mutation in the HFE gene. This results in an increase in iron absorption from the duodenum with increased deposition of iron in the liver, heart, joints, pancreas, and other endocrine organs. Undiagnosed and untreated, progressive iron deposition can cause hepatocellular injury, activation of hepatic stellate cells, and an increase in production of collagen and other components of the extracellular matrix, leading to the development of advanced fibrosis and cirrhosis. The most common causes of death in patients with untreated HH are complications of chronic liver disease and hepatocellular cancer.2

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