Hemochromatosis

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Hereditary hemochromatosis is an autosomal recessive liver disease of iron metabolism most common in populations of northern European extraction (~1 in 10 persons are heterozygous carriers and 0.3 to 0.5% are homozygotes; not rare) [1]. The disease causes primary iron overload by excessive intestinal iron absorption and deposition in parenchymal cells.

Possible mechanisms of pathology are the generation of free radicals; the stimulation of collagen formation; and direct reaction with DNA leading to cell death and cancer. Iron is deposited primarily in the liver, pancreas, myocardium, endocrine glands, and synovium. In the liver, there is increasing iron deposition (mainly in hepatocytes) and fibrosis with time, and eventually cirrhosis (without inflammation). Patients with hemochromatosis carry an increased risk of hepatocellular carcinoma.

Hemochromatosis patients do not have anemia, since there is no problem with heme or globin, and iron is plentiful. Pregnancy and menstruation provide protection against hemochromatosis, which can also be treated with phlebotomy of ~ 500mL of blood [2].


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