Review | Open Access
Paul C Adams, James C Barton, Gordon D McLaren, Ronald T Acton, Mark Speechley, Christine E McLaren, David M Reboussin, Catherine Leiendecker-Foster, Emily L Harris, Beverly M Snively, Thomas Vogt, Phyliss Sholinsky, Elizabeth Thomson, Fitzroy W Dawkins, Victor R Gordeuk, John H Eckfeldt, "Screening for Iron Overload: Lessons from the HEmochromatosis and IRon Overload Screening (HEIRS) Study", Canadian Journal of Gastroenterology and Hepatology, vol. 23, Article ID 839308, 4 pages, 2009. https://doi.org/10.1155/2009/839308
Screening for Iron Overload: Lessons from the HEmochromatosis and IRon Overload Screening (HEIRS) Study
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.
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.