Hemochromatosis and iron overload screening (HEIRS) Study design for an evaluation of 100,000 primary care-based adults

Christine E. McLaren, James C. Barton, Paul C. Adams, Emily L. Harris, Ronald T. Acton, Nancy Press, David M. Reboussin, Gordon D. McLaren, Phyliss Sholinsky, Ann P. Walker, Victor R. Gordeuk, Catherine Leiendecker-Foster, Fitzroy W. Dawkins, John H. Eckfeldt, Beverly G. Mellen, Mark Speechley, Elizabeth Thomson

Research output: Contribution to journalArticlepeer-review

117 Scopus citations


Background: The HEIRS Study will evaluate the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of hemochromatosis and iron overload in a multiethnic, primary care-based sample of 100,000 adults over a 5-year period. Participants are recruited from 5 Field Centers. Laboratory testing and data management and analysis are performed in a Central Laboratory and Coordinating Center, respectively. Methods: Participants undergo testing for serum iron measures and common mutations of the hemochromatosis gene (HFE) on chromosome 6p and answer questions on demographics, health, and genetic testing attitudes. Participants with elevated values of transferrin saturation and serum ferritin and/or C282Y homozygosity are invited to undergo a comprehensive clinical examination (CCE), as are frequency-matched control subjects. These examinations provide data on personal and family medical history, lifestyle characteristics, physical examination, genetic counseling, and assessment of ethical, legal, and social implications. Primary and secondary causes of iron overload will be distinguished by clinical criteria. Iron overload will be confirmed by quantification of iron stores. Recruiting family members of cases will permit DNA analysis for additional genetic factors that affect iron overload. Results: Of the first 50,520 screened, 51% are white, 24% are African American, 11% are Asian, 11% are Hispanic, and 3% are of other, mixed, or unidentified race; 63% are female and 37% are male. Conclusions: Information from the HEIRS Study will inform policy regarding the feasibility, optimal approach, and potential individual and public health benefits and risks of primary care-based screening for iron overload and hemochromatosis.

Original languageEnglish (US)
Pages (from-to)53-62
Number of pages10
JournalAmerican Journal of the Medical Sciences
Issue number2
StatePublished - Feb 1 2003

Bibliographical note

Funding Information:
The HEIRS Study was initiated and funded by the National Heart, Lung, and Blood Institute, in conjunction with the National Human Genome Research Institute. The study is supported by contracts N01-HC05185 (University of Minnesota), N01-HC05186 (Howard University), N01-HC05188 (University of Alabama at Birmingham), N01-HC05189 (Kaiser Permanente Center for Health Research), N01-HC05190 (University of California, Irvine), N01-HC05191 (London Health Sciences Centre), and N01-HC05192 (Wake Forest University). Additional support was provided by the Howard University General Clinical Research Center (GCRC) grant, M01-RR10284, and the UCSD/UCI Satellite GCRC grant, M01-RR00827 (University of California, Irvine), sponsored by the National Center for Research Resources, National Institutes of Health.


  • Genetic screening
  • Hemochromatosis HFE
  • Iron overload
  • Primary health care


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