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 u
sed decision analysis techniques to determine whether screening the po
pulation at large for hereditary hemochromatosis would be cost-effecti
ve. Methods: We constructed a model to compare the cost and outcome of
a strategy of performing screening transferrin saturation tests on co
horts of 30-year old men with that of awaiting symptomatic disease. Ba
seline estimates of disease prevalence and complication rates were bas
ed on the published literature. Costs of treatment were estimated base
d on prevailing local costs. Sensitivity analyses were then conducted
to determine which variables had the most significant impact on the de
cision 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 signifi
cant impact on the decision to screen: (1) the prevalence of hereditar
y hemochromatosis, (2) the probability of developing disease manifesta
tions, (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 t
han 3%. Using more pessimistic estimates, the cost per life year saved
was still less than that considered acceptable for many common medica
l interventions. Conclusion: Screening for hereditary hemochromatosis
has a favorable cost-effectiveness ratio over a wide range of assumpti
ons. We recommend that practitioners consider including a serum transf
errin saturation test in their routine screening for asymptomatic whit
e men.