title: A Systematic Review and Narrative Synthesis of Health Economic Studies Conducted for Hereditary Haemochromatosis.
abstract: BACKGROUND
  Hereditary haemochromatosis (HH) is a common genetic condition amongst people of northern European heritage. HH is associated with increased iron absorption leading to parenchymal organ damage and multiple arthropathies. Early diagnosis and treatment prevents complications. Population screening may increase early diagnosis, but no programmes have been introduced internationally: a paucity of health economic data is often cited as a barrier.
  
  
  OBJECTIVE
  To conduct a systematic review of all health economic studies in HH.
  
  
  METHODS
  Studies were identified through electronic searching of economic/biomedical databases. Any study on HH with original economic component was included. Study quality was formally assessed. Health economic data were extracted and analysed through narrative synthesis.
  
  
  RESULTS
  Thirty-eight studies met the inclusion criteria. The majority of papers reported on costs or cost effectiveness of screening programmes. Whilst most concluded screening was cost effective compared with no screening, methodological flaws limit the quality of these findings. Assumptions regarding clinical penetrance, effectiveness of screening, health-state utility values (HSUVs), exclusion of early symptomatology (such as fatigue, lethargy and multiple arthropathies) and quantification of costs associated with HH were identified as key limitations. Treatment studies concluded therapeutic venepuncture was the most cost-effective intervention.
  
  
  CONCLUSIONS
  There is a paucity of high-quality health economic studies relating to HH. The development of a comprehensive HH cost-effectiveness model utilising HSUVs is required to determine whether screening is worthwhile.
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Medical Science Building 2, 17 Liverpool St (Private Bag 23), Hobart, Tasmania, 7000, Australia.
authors.forename: Barbara
authors.initials: B
authors.lastname: de Graaff
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Medical Science Building 2, 17 Liverpool St (Private Bag 23), Hobart, Tasmania, 7000, Australia.
authors.forename: Amanda
authors.initials: A
authors.lastname: Neil
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Medical Science Building 2, 17 Liverpool St (Private Bag 23), Hobart, Tasmania, 7000, Australia.
authors.forename: Kristy
authors.initials: K
authors.lastname: Sanderson
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Medical Science Building 2, 17 Liverpool St (Private Bag 23), Hobart, Tasmania, 7000, Australia.
authors.forename: Lei
authors.initials: L
authors.lastname: Si
authors.affiliation: School of Medicine, University of Tasmania, Medical Science 1 Building, 17 Liverpool St, Private Bag 68, Hobart, TAS, 7000, Australia.
authors.forename: Kwang Chien
authors.initials: KC
authors.lastname: Yee
authors.affiliation: Menzies Institute for Medical Research, University of Tasmania, Medical Science Building 2, 17 Liverpool St (Private Bag 23), Hobart, Tasmania, 7000, Australia. Andrew.Palmer@utas.edu.au.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Palmer
mesh_terms: D003362:Cost-Benefit Analysis; D017048:Health Care Costs; D006432:Hemochromatosis / Q000175:diagnosis / Q000191:economics*; D006801:Humans; D008403:Mass Screening / Q000191:economics / Q000941:ethics