- Increased accumulation of iron.
- Symptoms include hepatic cirrhosis, cardiomyopathy, joint pain, and in some cases, hepatocellular carcinoma.
- Although 1:300 whites inherit the homozygous genotype, a much smaller percentage of individuals develop the disease (approximately 1 in 1000-2000)
- This incomplete penetrance is caused in part by periodic iron loss, particularly in women (menstruation, pregnancy, and lactation all leading to depletion of iron stores).
- Genetic or hereditary hemochromotosis is mainly associated with a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food.
- Iron is over-absorbed from the diet.
- The liver shows a prominent dark brown discoloration because of excessive iron b/c of excessive iron storage.
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