Screening for Hereditary Hemochromatosis in Siblings and Children of Affected Patients: A Cost-Effectiveness Analysis

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Abstract
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. To compare the cost-effectiveness of no screening with four screening strategies that incorporate HFE gene testing or serum iron studies. Cost-effectiveness analysis. Published literature. Siblings and children of an affected proband. Lifetime from 10 years of age (children) or 45 years of age (siblings). Societal. 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. Cost per life-year saved and incremental cost-effectiveness ratio. In children, HFE gene testing of the proband was the most cost-effective strategy for screening one child (incremental cost-effectiveness ratio, $508 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, $3665 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. 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. HFE gene testing for the C282Y mutation is a cost-effective method of screening relatives of patients with hereditary hemochromatosis.

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