Screening for Hemocromatosis

The U.S. Preventive Services Task Force (USPSTF) periodically releases updates of guidelines, always concluding with a recommendation classified in this way:

1. The intervention is strongly recommended
2. The intervention is recommended
3. There are neither recommendations in favour, nor recommendations against
4. The intervention is not routinely recommended
I the evidence is not sufficient to give a recommendation

Starting from a systematic review of the available evidence on hemocromatosis prevention, the recourse to genetic tests in the general asymptomatic population is not recommended. This recommendation is not applied to subjects presenting signs or symptoms of the disease or to those with a family history of hemocromatosis. D recommendation.
The USPSTF based this recommendation of the fact that hemocromatosis is a rare disease and that only a little percentage of subjects with a risk genotype (C282Y homozygotes) shows the disease. Besides, a poor evidence was found on the usefulness of early bloodlettings in the improvement of morbility and mortality (no case-control trial). Since screening would imply the unnecessary cataloguing of some people, the starting of further analyses, the inevitable situation of connected anxiety, the USPSTF concludes that the potential damage deriving from a mass screening goes over the possible obtainable benefits.

As it happens in most cases, in this situation too there are no valid argumentations in favour of this screening ; now the USPSTF further reinforces this recommendation. Obviously these conclusions are not applied when we speak of a screening targeted on high-risk subjects.