Costs associated with hereditary haemochromatosis in Australia: a cost-of-illness study

Objective The aim of the present study was to assess health sector, other sector and time-related (productivity) costs associated with hereditary haemochromatosis from societal, government and patient perspectives for the Australian setting. Methods A national web-based survey of people with haemochromatosis was conducted between November 2013 and February 2015. Participants completed a health survey and resource use diaries. Costs were calculated using a bottom-up approach and calculated in 2015 Australian dollars. Results Cost data were available for 157 participants. From a societal perspective, the estimated annual cost of haemochromatosis was A$274million. The mean (95% confidence interval) cost for symptomatic patients was almost threefold greater than that of asymptomatic patients (A$10030 (7705-12670) vs A$3701 (2423-5296) respectively). Health sector and productivity-related time loss were the main cost drivers. When extrapolating costs to the Australian population level, asymptomatic haemochromatosis accounted for higher costs than symptomatic haemochromatosis (A$183million vs A$91million), reflecting the low clinical penetrance estimate used. Total costs increased when higher clinical penetrance estimates were used. Conclusion The present cost-of-illness study, the first to be published for haemochromatosis, found that although costs were substantial, they could be decreased by reducing clinical penetrance. Development of cost-effective strategies to increase early diagnosis is likely to result in better health outcomes for patients and lower total costs. What is known about the topic? To date, no cost-of-illness study has been conducted for haemochromatosis. Previous economic work in this area has relied on cost estimates based on expert opinion. What does the paper add? This paper provides the first cost estimates for haemochromatosis for the Australian population. These estimates, calculated using a bottom-up approach, were extrapolated to the population level based on the most robust epidemiological estimates available for the Australian population. What are the implications for practitioners? Population screening programs have been widely suggested as an approach to reduce clinical penetrance; however, the lack of high-quality economic analyses has been cited as a barrier to implementation. The present study provides the most robust cost estimates to date, which may be used to populate economic models. In addition, the present study illustrates that reducing clinical penetrance of haemochromatosis is likely to result in substantial reductions in cost.