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Patients who present with signs and symptoms of liver disease actually might suffer from hemochromatosis, but this disorder rarely is high on a physician’s list of differential diagnoses. Thus, the underlying iron overload often is not recognized until late in the course of disease. To avoid this outcome, population-based screening for hemochromatosis has been proposed, but controversy continues about which test is most sensitive and specific and whether any screening test is cost-effective for a disease with low penetrance.
To help resolve this question, investigators from the Scripps Research Institute and Kaiser Permanente Southern California analyzed data from 29,699 people (mean age, 59; all were self-identified as white) who were seen …