Introduction

As many as 1 million persons in the United States are affected by hemochromatosis, a genetic condition characterized by excess iron absorption and pathologic iron deposition in tissue. If undetected and untreated, hemochromatosis can result in illness (such as cirrhosis, hepatoma, diabetes, cardiomyopathy, arthritis, arthropathy, and hypopituitarism with hypogonadism) and death. The identification and treatment of asymptomatic persons in whom iron measures are elevated but hemochromatosis is not clinically apparent have been recommended as a potentially cost-effective strategy for preventing hemochromatosis-associated illness and death. Nonetheless, some experts argue that before universal screening can be recommended, the clinical expression and natural history of hemochromatosis must be clarified and the infrastructure necessary to support a universal screening program (including laboratory standardization and physician education) must be established. The recent discovery of a gene associated with hemochromatosis has made it possible to use DNA testing along with, or instead of, iron measures in screening. Although this discovery has increased interest in hemochromatosis, it has also raised new questions about screening for and diagnosis of the disease. One objective of the meeting on Iron Overload, Public Health, and Genetics, sponsored by the Centers for Disease Control and Prevention and the National Institutes of Health in March 1997, was to review the scientific information available on population screening for hemochromatosis. Our assessment of the evidence and recommendations for action are presented here.

Methods for evaluating the evidence for population screening for hemochromatosis

US Preventive Services Task Force criteria were used15 to evaluate evidence related to population screening for hemochromatosis that was presented at the meeting on Iron Overload, Public Health and Genetics or was published before August 1997.