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Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study
Paul Adams1, James C Barton, Gordon D McLaren
1Department of Medicine, London Health Sciences Centre, London, Canada. padams@uwo.ca
Insights
Generalized population screening for hemochromatosis is not recommended, as the HEIRS Study found it ineffective. Focused screening in Caucasian men may be considered, but requires further debate on optimal methods.
Area of Science:
- Medical screening
- Genetic disease
- Public health
Background:
- The HEmochromatosis and IRon Overload Screening (HEIRS) Study collected data from a diverse North American primary care population.
- This study aimed to evaluate the effectiveness of population-based screening for hemochromatosis.
Purpose of the Study:
- To review lessons learned from the HEIRS Study regarding screening principles for medical diseases.
- To assess the utility of HFE gene mutation testing and iron studies for hemochromatosis screening.
Main Methods:
- Screening of 101,168 participants for HFE C282Y and H63D mutations.
- Measurement of serum ferritin and transferrin saturation levels.
- Review of screening principles based on World Health Organization guidelines.
Main Results:
- Genetic testing for hemochromatosis is well-accepted with low discrimination risk.
- Transferrin saturation shows high variability and low sensitivity for detecting HFE C282Y homozygotes.
- No increased symptom prevalence in screened individuals with HFE C282Y homozygosity compared to controls.
Conclusions:
- Generalized population screening for hemochromatosis in primary care is not advised.
- Focused screening in Caucasian men may be beneficial, with ongoing discussion on genotyping-first versus phenotyping-first approaches.
Background:
The HEmochromatosis and IRon Overload Screening (HEIRS) Study provided data on a racially, ethnically and geographically diverse cohort of participants in North America screened from primary care populations.
Methods:
A total of 101,168 participants were screened by testing for HFE C282Y and H63D mutations, and measuring serum ferritin concentration and transferrin saturation. In the present review, lessons from the HEIRS Study are highlighted in the context of the principles of screening for a medical disease as previously outlined by the World Health Organization.
Results:
Genetic testing is well accepted, with minimal risk of discrimination. Transferrin saturation has high biological variability and relatively low sensitivity to detect HFE C282Y homozygotes, which limits its role as a screening test. Symptoms attributable to HFE C282Y homozygosity are no more common in individuals identified by population screening than in control subjects.
Conclusions:
Generalized population screening in a primary care population as performed in the HEIRS Study is not recommended. There may be a role for focused screening in Caucasian men, with some debate regarding genotyping followed by phenotyping, or phenotyping followed by genotyping.
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