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Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis

, : Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Annals of Internal Medicine 132(4): 261-269

Background: Screening for hereditary hemochromatosis is traditionally done by using serum iron studies. However, mutation analysis of the hemochromatosis-associated HFE gene has recently become available. Objective: To compare the cost-effectiveness of no screening with four screening strategies that incorporate HFE gene testing or serum iron studies. Design: Cost-effectiveness analysis. Data Sources: Published literature. Target Population: Siblings and children of an affected proband. Time Horizon: Lifetime from 10 years of age (children) or 45 years of age (siblings). Perspective: Societal. Intervention: 1) Serum iron studies. 2) Gene testing of the proband. If the proband is homozygous (C282Y+/+), the spouse undergoes gene testing; if he or she is heterozygous (C282Y+/-), the children undergo gene testing. 3) Gene testing of the proband; if he or she is homozygous, relatives undergo gene testing. 4) Direct gene testing of relatives. Outcome Measures: Cost per life-year saved and incremental cost-effectiveness ratio. Results of Base-Case Analysis: In children, HFE gene testing of the proband was the most cost-effective strategy for screening one child (incremental cost-effectiveness ratio, dollar sign508 per life-year saved). HFE gene testing of the proband followed by testing of the spouse was the most cost-effective strategy for screening two or more children (incremental cost-effectiveness ratio, dollar sign3665 per life-year saved). In siblings, all screening strategies were dominant compared with no screening. Strategies using HFE gene testing were less costly than serum iron studies. Results of Sensitivity Analysis: Despite varying the prevalence of mutations and regardless of the cost of the genetic test in one- and two-way sensitivity analyses, HFE gene testing remained cost-effective. Conclusions: HFE gene testing for the C282Y mutation is a cost-effective method of screening relatives of patients with hereditary hemochromatosis.


PMID: 10681280

DOI: 10.7326/0003-4819-132-4-200002150-00003

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