The iron storage disorder hereditary hemochromatosis (HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene. The disease-causing genetic variant 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. This variant may also be one of the factors modifying Wilson's disease phenotype, making the symptoms of the disease appear earlier. Allele frequencies of<unk> C282Y in ethnically diverse western European white populations are 5-14% and in North American non-Hispanic whites are 6-7%. C282Y exists as a polymorphism only in Western European white and derivative populations, although C282Y may have arisen independently in non-whites outside Europe.<unk> H63D is cosmopolitan but occurs with greatest frequency in whites of European descent. Allele frequencies of H63D in ethnically diverse western European populations are 10-29%. and in North American non-Hispanic whites are 14-15%. At least 42 mutations involving<unk> introns and exons have been discovered, most of them in persons with hemochromatosis or their family members. Most of these mutations are rare. Many of the mutations cause or probably cause hemochromatosis phenotypes, often in compound heterozygosity with<unk> C282Y. Other mutations are either synonymous or their effect on iron phenotypes, if any, has not been demonstrated.
HFE 
NLM
CMF 
MOPP 
E-med
CAPOX
POMP
FCM 