Genetic Diseases Associated with Iron Overload
Keywords:
Iron, HFE, hemochromatosis, hepcidinAbstract
Hereditary hemochromatosis type I is one of the most common
human genetic diseases estimating that in average around 1:260
of the Caucasian population is affected by such disease. In our
country, occurs mainly in the northern territory. Despite that,
hereditary hemochromatosis has a variable penetrance and
clinical manifestations, affecting several organs and systems,
therefore internists should be aware of such pathology. Hepcidin,
the central regulator peptide of iron metabolism, has a crucial
role on hemochromatotic genetic diseases. We present a review
about the several genetic diseases associated with iron overload.
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