Mary E. Cogswell, DrPH; Sharon M. McDonnell, MD, MPH; Muin J. Khoury, MD, PhD; Adele L. Franks, MD; Wylie Burke, MD, PhD; Gary Brittenham, MD
Population screening for hemochromatosis done by using the transferrin saturation test has been advocated by experts to permit the initiation of therapeutic phlebotomy before the onset of clinical disease.The discovery of a gene associated with hemochromatosis has made DNA testing another option for screening and diagnosis. In this paper, U.S. Preventive Services Task Force criteria are used to evaluate the evidence for the usefulness of population screening done by using iron measures or genetic testing.
Published clinical research offers little evidence to suggest that population screening for hemochromatosis done by using genetic testing improves clinical outcomes.Although one recently discovered mutation, C282Y, accounts for 60% to 92% of cases of the disease in series of patients with hemochromatosis, uncertainties remain about the clinical penetrance of various genotypes; the accuracy of genetic testing; and the ethical, legal, and social effects of genetic testing. Before population screening for hemochromatosis done by using transferrin saturation testing can be recommended, laboratory standardization needs to be addressed and questions about risk for clinical disease in asymptomatic persons with mutations or early biochemical expression of disease require resolution. Evidence from case series suggests that hemochromatosis may be associated with liver cancer, other liver disease, diabetes, bradyarrhythmias, and arthritis. In all studies but one, however, estimation of the magnitude and significance of this risk is limited by lack of adequate comparison groups. The need for population data to answer questions about penetrance among asymptomatic persons should not impede efforts to increase the detection and treatment of hemochromatosis in persons found to have elevated iron measures, a family history of hemochromatosis, or consistent early signs and symptoms of the disease.
Cogswell ME, McDonnell SM, Khoury MJ, et al. Iron Overload, Public Health, and Genetics: Evaluating the Evidence for Hemochromatosis Screening. Ann Intern Med. 1998;129:971–979. doi: https://doi.org/10.7326/0003-4819-129-11_Part_2-199812011-00008
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Published: Ann Intern Med. 1998;129(11_Part_2):971-979.
Cardiology, Coronary Risk Factors, Diabetes, Endocrine and Metabolism, Gastroenterology/Hepatology.
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