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
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Rationale:
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.
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Supporting Documents
Screening for Hemochromatosis, August 2006
Recommendation
Statement (PDF File, 210 KB; PDF Help)
Article (PDF File, 435 KB; PDF Help)
Evidence Synthesis (PDF File, 1.5 MB; PDF Help)
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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. http://www.ahrq.gov/clinic/uspstf/uspshemoch.htm