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

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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