Your browser doesn't support JavaScript. Please upgrade to a modern browser or enable JavaScript in your existing browser.
Skip Navigation U.S. Department of Health and Human Services
Agency for Healthcare Research Quality

Screening for Hemochromatosis

U.S. Preventive Services Task Force

Release Date: August 2006

Summary of Screening Recommendations / Supporting Documents

Screening for Hemochromatosis

  • The U.S. Preventive Services Task Force (USPSTF) recommends against routine genetic screening for hereditary hemochromatosis in the asymptomatic general population.

    Rating: "D" recommendation

Importance: There is fair evidence that disease due to hereditary hemochromatosis is rare in the general population.
Detection: The USPSTF found fair evidence that a low proportion of individuals with a high-risk genotype (C282Y homozygote at the HFE locus, a mutation common among white populations presenting with clinical symptoms) manifest the disease.
Benefits of detection and early intervention: There is poor evidence that early therapeutic phlebotomy improves morbidity and mortality in screening-detected versus clinically detected individuals.
Harms of detection and early treatment: Screening could lead to identification of a large number of individuals who possess the high-risk genotype but may never manifest the clinical disease. This may result in unnecessary surveillance, labeling, unnecessary invasive work-up, anxiety, and, potentially, unnecessary treatments.
USPSTF assessment: The USPSTF concludes that the potential harms of genetic screening for hereditary hemochromatosis outweigh the potential benefits.

Top of Page

Supporting Documents

Screening for Hemochromatosis, August 2006
Recommendation Statement (PDF File, 210 KB; PDF Help)
Systematic Review (PDF File, 435 KB; PDF Help)

Top of Page

Current as of August 2006

Internet Citation:

Screening for Hemochromatosis, Topic Page. August 2006. U.S. Preventive Services Task Force. Agency for Healthcare Research and Quality, Rockville, MD.


AHRQ Advancing Excellence in Health Care