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

Background: Screening for hereditary hemochromatosis is traditionally done by using serum iron studies. However, mutation analysis of the hemochromato sis-associated HFE gene has recently become available. Objective: To compare the cost-effectiveness of no screening with four scre ening 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) G ene testing of the proband; if he or she is homozygous, relatives undergo g ene testing. 4) Direct gene testing of relatives. Outcome Measures: Cost per life-year saved and incremental cost-effectivene ss 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, $508 per life-year saved). HFE gene testing of th e proband followed by testing of the spouse was the most cost-effective str ategy for screening two or more children (incremental cost-effectiveness ra tio, $3665 per life-year saved). In siblings, all screening strategies were dominant compared with no screening. Strategies using HFE gene testing wer e less costly than serum iron studies. Results of Sensitivity Analysis: Despite varying the prevalence of mutation s and regardless of the cost of the genetic test in one- and two-way sensit ivity analyses, HFE gene testing remained cost-effective. Conclusions: HFE gene testing for the C282Y mutation is a cost-effective me thod of screening relatives of patients With hereditary hemochromatosis.