title: Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis.
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.
  
  
  METHODS
  Cost-effectiveness analysis.
  
  
  METHODS
  Published literature.
  
  
  METHODS
  Siblings and children of an affected proband.
  
  
  METHODS
  Lifetime from 10 years of age (children) or 45 years of age (siblings).
  
  
  CONCLUSIONS
  Societal.
  
  
  METHODS
  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.
  
  
  METHODS
  Cost per life-year saved and incremental cost-effectiveness ratio.
  
  
  RESULTS
  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
  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.
authors.affiliation: Health Services Research Section, Houston Veterans Affairs Medical Center and Baylor College of Medicine, Texas 77030, USA.
authors.forename: H B
authors.initials: HB
authors.lastname: El-Serag
authors.forename: J M
authors.initials: JM
authors.lastname: Inadomi
authors.forename: K V
authors.initials: KV
authors.lastname: Kowdley
mesh_terms: D003362:Cost-Benefit Analysis; D003663:Decision Trees; D005805:Genes, MHC Class I / Q000235:genetics*; D005817:Genetic Counseling / Q000191:economics*; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D008565:Membrane Proteins; D009679:Nuclear Family; D017354:Point Mutation; D012680:Sensitivity and Specificity
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron