Abstract:
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 (C82Y+/+), the spouse undergoes gene testing; if he or she is heterozygous (C82Y+/-), 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, $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. 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.
journal_name
Ann Intern Medjournal_title
Annals of internal medicineauthors
El-Serag HB,Inadomi JM,Kowdley KVdoi
10.7326/0003-4819-132-4-200002150-00003subject
Has Abstractpub_date
2000-02-15 00:00:00pages
261-9issue
4eissn
0003-4819issn
1539-3704pii
200002150-00003journal_volume
132pub_type
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