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Canadian Journal of Gastroenterology
Volume 23, Issue 11, Pages 769-772

Screening for Iron Overload: Lessons from the HEmochromatosis and IRon Overload Screening (HEIRS) Study

Paul C Adams,1 James C Barton,2 Gordon D McLaren,3 Ronald T Acton,4 Mark Speechley,5 Christine E McLaren,6 David M Reboussin,7 Catherine Leiendecker-Foster,8 Emily L Harris,9 Beverly M Snively,7 Thomas Vogt,10 Phyliss Sholinsky,11 Elizabeth Thomson,12 Fitzroy W Dawkins,13 Victor R Gordeuk,10 and John H Eckfeldt8

1Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
2Southern Iron Disorders Center, Birmingham, Alabama, USA
3VA Long Beach Healthcare System, Long Beach, and Univeristy of California, Irvine, California, USA
4Department of Microbiology, University of Alabama, Birmingham, Alabama, USA
5University of Western Ontario, London, Ontario, Canada
6Department of Epidemiology, University of California, Irvine, California, USA
7Division of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA
8Departments of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
9Translational Genomics Research Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
10Kaiser Permanente Center for Health Research, Honolulu, Hawaii, USA
11Department of Epidemiology and Biostatistics, Epidemiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
12National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
13Department of Medicine, Howard University, Washington DC, USA

Received 23 June 2009; Accepted 25 June 2009

Copyright © 2009 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.