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Training & Education - Epidemiology Summary

  • Reported U.S. population prevalence estimates of iron overloading (based on random non-fasting elevated transferrin saturation, TS values) range from 1% to 6%.
  • A lower percentage of people who initially have a random elevated TS also have persistently elevated TS: estimates range from 35% to 50%.
  • An even lower percentage of people with persistently elevated TS measures also have elevated serum ferritin values.
  • Thus, the proportion of people who will develop clinical signs and symptoms of hemochromatosis is even lower than the proportion of people with elevated serum ferritin, SF values.
HFE gene mutations
  • Two HFE gene mutations, C282Y and H63D, account for the majority of hereditary hemochromatosis cases; C282Y is most common.
  • Hereditary hemochromatosis is inherited in an autosomal recessive pattern.
HFE genotype frequencies
  • The population prevalence of HFE mutations depends on race and ethnicity but is most prevalent among persons of European origin and descent.
  • Of people with HFE gene mutations, only a subset will develop an elevated TS. Of those with an elevated TS, only a subset will develop an elevated SF. Of those with an elevated SF, only a subset will develop hemochromatosis symptoms. Of those with symptoms, only a subset will develop clinical signs consistent with hemochromatosis.
  • Most clinicians reserve the hemochromatosis diagnosis for patients whose signs and symptoms are clearly referable to documented iron overload as reflected by serum iron testing measurements.
  • Iron status testing is more clinically relevant than genetic testing for identifying those who have hemochromatosis.
Population screening
  • At this time, CDC does not recommend population screening for HFE gene mutations because of the uncertainty about what proportion of people with HFE gene mutations will develop hemochromatosis.

Test Your Knowledge

This is an optional self-quiz and is not required for continuing education credit.

Select the best answers below. If you need help, feel free to go back to Prevalence and review.

Question 1: Which of the following factors may place a patient at increased risk of developing hemochromatosis?
European origin and descent.
Blood relative with documented iron overload.
Blood relative with a documented HFE gene mutation.
Blood relative with documented hemochromatosis.
Blood relative with documented hereditary hemochromatosis.

Question 2: Of people with HFE gene mutations, only a subset will develop clinical signs consistent with hemochromatosis.