title: Impact of hemochromatosis screening in patients with indeterminate results: the hemochromatosis and iron overload screening study.
abstract: OBJECTIVE
  Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin.
  
  
  METHODS
  The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening.
  
  
  RESULTS
  Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload.
  
  
  CONCLUSIONS
  Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.
authors.affiliation: Department of Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.
authors.forename: Roger T
authors.initials: RT
authors.lastname: Anderson
authors.forename: Lari
authors.initials: L
authors.lastname: Wenzel
authors.forename: Ann P
authors.initials: AP
authors.lastname: Walker
authors.forename: Andrea
authors.initials: A
authors.lastname: Ruggiero
authors.forename: Ronald T
authors.initials: RT
authors.lastname: Acton
authors.forename: Mark A
authors.initials: MA
authors.lastname: Hall
authors.forename: Diane C
authors.initials: DC
authors.lastname: Tucker
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Thomson
authors.forename: Barbara
authors.initials: B
authors.lastname: Harrison
authors.forename: Edmund
authors.initials: E
authors.lastname: Howe
authors.forename: Joan
authors.initials: J
authors.lastname: Holup
authors.forename: Catherine
authors.initials: C
authors.lastname: Leiendecker-Foster
authors.forename: Tara
authors.initials: T
authors.lastname: Power
authors.forename: Paul
authors.initials: P
authors.lastname: Adams
mesh_terms: D000328:Adult; D000368:Aged; D001294:Attitude to Health; D005006:Ethnicity; D005260:Female; D005820:Genetic Testing / Q000523:psychology*; D006432:Hemochromatosis / Q000235:genetics* / Q000523:psychology; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011788:Quality of Life; D012923:Social Class