How does heterozygosity affect the mortality risk of hemochromatosis?

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

When Bathum et al studied the significance of heterozygosity and mortality, the investigators found that in a population with high carrier frequency, such as the Danish, mutations in HFE show an age-related reduction in the frequency of heterozygotes for the C282Y mutation. This suggests that carrier status is associated with shorter life expectancy. [59] In the same study, genotyping for mutations in exons 2 and 4 of the HFE gene showed a trend toward fewer heterozygotes for the C282Y mutation in exon 4 mutations.


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