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Pradyumna D. Phatak, MD; Gladys Guzman, MS; Judith E. Woll, MD; Alice Robeson, MPH; Charles E. Phelps, PhD

Arch Intern Med. 1994;154(7):769-776.

Abstract
Background
Recent studies have estimated the prevalence of hereditary hemochromatosis to be 3 to 8 per 1000. Early detection and treatment can prevent disease manifestations and normalize life expectancy. We used decision analysis techniques to determine whether screening the population at large for hereditary hemochromatosis would be cost-effective.

Methods
We constructed a model to compare the cost and outcome of a strategy of performing screening transferrin saturation tests on cohorts of 30-year old men with that of awaiting symptomatic disease. Baseline estimates of disease prevalence and complication rates were based on the published literature. Costs of treatment were estimated based on prevailing local costs. Sensitivity analyses were then conducted to determine which variables had the most significant impact on the decision to screen.

Results
At our baseline estimates, the decision to screen was found to be a dominant strategy and resulted in cost saving. Sensitivity analysis showed that four variables had the most significant impact on the decision to screen: (1) the prevalence of hereditary hemochromatosis, (2) the probability of developing disease manifestations, (3) the cost of the screening test, and (4) the discount rate. Screening was a dominant strategy for asymptomatic men provided that the prevalence of hereditary hemochromatosis was at least 3 per 1000, the probability of developing disease manifestations was greater than 0.4, the test cost was less than $12, and the discount rate was less than 3%. Using more pessimistic estimates, the cost per life year saved was still less than that considered acceptable for many common medical interventions.

Conclusion
Screening for hereditary hemochromatosis has a favorable cost-effectiveness ratio over a wide range of assumptions. We recommend that practitioners consider including a serum transferrin saturation test in their routine screening for asymptomatic white men.

(Arch Intern Med. 1994;154:769-776)

Author Affiliations
From the Mary M. Gooley Hemophilia Center Inc (Dr Phatak and Mss Guzman and Robeson); the Hematology Unit, Rochester General Hospital (Dr Phatak), and the Department of Community and Preventive Medicine (Dr Phelps), University of Rochester School of Medicine and Dentistry; and American Red Cross Blood Services, Rochester Region (Dr Woll), Rochester, NY.

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