Clinical Significance
The iron storage disorder, hereditary hemochromatosis,(HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.
The mutation or polymorphism most commonly associated with hemochromatosis is p. C282Y. About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males are at high risk of developing hemochromatosis.
Read more about this topic: HFE (gene)
Famous quotes containing the word significance:
“Politics is not an end, but a means. It is not a product, but a process. It is the art of government. Like other values it has its counterfeits. So much emphasis has been placed upon the false that the significance of the true has been obscured and politics has come to convey the meaning of crafty and cunning selfishness, instead of candid and sincere service.”
—Calvin Coolidge (1872–1933)