Hemochromatosis/Haemochromatosis

Summary of Recommendations and Evidence


 
[B] The following conclusions are supported by fair evidence:
Of the various hereditary hemochromatosis genotypes, being homozygous for the C282Y mutation (C282Y/C282Y) is associated with the greatest risk of developing iron overload. Other genotypes (H63D homozygosity, single or compound heterozygosity of C282Y or H63D) are associated with smaller risk of iron overload. However, carrying the genetic mutation(s) does not necessarily mean the individual will develop iron overload and have
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