Which mutations are prevalent in hemochromatosis?

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

The prevalence of the C282Y and H63D mutations in patients with alcoholic liver disease and in those with chronic hepatitic C (HCV) is the same as in the control population, whereas, in patients with nonalcoholic steatohepatitis (NASH), the prevalence of HFE mutations is higher. Moreover, 40% of patients with porphyria cutanea tarda are homozygous or heterozygous for the C282Y mutation (shown in patients from the United States, the United Kingdom, and Australia but not in Italian patients).


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