What is the prevalence of hemochromatosis in the US?

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Prevalence of hereditary hemochromatosis in the United States is 1 case in 200-500 individuals. Most are of northern European origin. [38] Frequency of the C282Y mutation is 5.4% and that of the H63D mutation is 13.5%. Prevalence of C282Y homozygosity has been estimated to be 0.26%, the H63D homozygosity was estimated to be 1.89%, and compound heterozygosity was estimated to be 1.97%. [39] The carrier state is estimated to be approximately 10%.


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