What are the ethnic predilections of hemochromatosis?

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

Marked geographical disparity in the distribution of the C282Y mutation has been noted. Non-HFE- associated hereditary hemochromatosis was found in Mediterranean countries. [43]

In populations of northern European ancestry, hereditary hemochromatosis is closely linked to mutations in HFE. [41] In one study, more than 93% of Irish patients with hereditary hemochromatosis were homozygous for the HFE C282Y mutation, providing a reliable diagnostic marker of the disease in this population. [41] However, the prevalence of the C282Y mutation and that of the second HFE mutation, H63D, have not been determined in the Irish population.

In a population of white adults of northern European ancestry, 0.5% were homozygous for the C282Y mutation in HFE. [44] However, only half the homozygotes had clinical features of hemochromatosis, and one quarter had serum ferritin levels that remained within the reference range over a 4-year period. The G320V mutation seems to be widely distributed among juvenile hemochromatosis patients from central Europe and Greece. [45] Therefore, detection of the G320V mutation could be a noninvasive method to identify most of the patients from these regions.


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