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.