Free Standard AU & NZ Shipping For All Book Orders Over $80!
Register      Login
Australian Health Review Australian Health Review Society
Journal of the Australian Healthcare & Hospitals Association
RESEARCH ARTICLE

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

Barbara de Graaff A , Amanda Neil A , Kristy Sanderson A , Kwang Chien Yee B and Andrew J. Palmer A C
+ Author Affiliations
- Author Affiliations

A Menzies Institute for Medical Research, Medical Science 2 Building, 17 Liverpool Street, Private Bag 23, University of Tasmania, Hobart, Tas. 7000, Australia. Email: Barbara.degraaff@utas.edu.au; Amanda.Neil@utas.edu.au; Kristy.Sanderson@utas.edu.au

B School of Medicine, Medical Science 1 Building, 17 Liverpool Street, Private Bag 68, University of Tasmania, Hobart, Tas. 7000, Australia. Email: Kwang.Yee@utas.edu.au

C Corresponding author. Email: Andrew.Palmer@utas.edu.au

Australian Health Review 41(3) 254-267 https://doi.org/10.1071/AH15188
Submitted: 12 October 2015  Accepted: 24 May 2016   Published: 22 July 2016

Abstract

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$274 million. The mean (95% confidence interval) cost for symptomatic patients was almost threefold greater than that of asymptomatic patients (A$10 030 (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$183 million vs A$91 million), 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.


References

[1]  Worwood M. Inborn errors of metabolism: iron. Br Med Bull 1999; 55 556–67.
Inborn errors of metabolism: iron.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3cXisVKnsA%3D%3D&md5=7e0ef3f8feffaaa6b2fc5eb27e112610CAS | 10746346PubMed |

[2]  Allen K. Hereditary haemochromatosis: diagnosis and management. Aust Fam Physician 2010; 39 938–41.
| 21301675PubMed |

[3]  Wood MJ, Skoien R, Powell LW. The global burden of iron overload. Hepatol Int 2009; 3 434–44.
The global burden of iron overload.Crossref | GoogleScholarGoogle Scholar | 19669241PubMed |

[4]  Gagne G, Reinharz D, Laflamme N, Adams PC, Rousseau F. Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms. Clin Genet 2007; 71 46–58.
Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD2s%2FgvVKgsA%3D%3D&md5=dc7eb079f41906b43f9111de63b31d35CAS | 17204047PubMed |

[5]  Adams PC, Valberg L. Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol 1999; 94 1593–600.
Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DyaK1M3ptVKqug%3D%3D&md5=45f2efdc14512100d3d04267219bb244CAS | 10364030PubMed |

[6]  Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999; 130 953–62.
HFE genotype in patients with hemochromatosis and other liver diseases.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DyaK1M3psVertQ%3D%3D&md5=1e4bcf7abb842e1d0dfbc2db76979809CAS | 10383365PubMed |

[7]  Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999; 341 718–24.
A population-based study of the clinical expression of the hemochromatosis gene.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DyaK1MzotlKhsw%3D%3D&md5=fb633dace5c154ec958a732e6a87a218CAS | 10471457PubMed |

[8]  Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008; 358 221–30.
Iron-overload-related disease in HFE hereditary hemochromatosis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1cXms1OrsA%3D%3D&md5=6e78bbf60056bb64240f02433e1e5b4fCAS | 18199861PubMed |

[9]  Mclaren CE, Gordeuk VR, Looker AC, Hasselbad V, Edwards CQ, Griffen LM, Kushner JP, Brittenham GM. Prevalence of heterozygotes for hemochromatosis in the White-population of the United-States. Blood 1995; 86 2021–7.
| 1:CAS:528:DyaK2MXnslKqsrk%3D&md5=3352cbd269060ff464c82a582c13a34cCAS | 7655030PubMed |

[10]  Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckhardt JH, McLaren GD, et al Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352 1769–78.
Hemochromatosis and iron-overload screening in a racially diverse population.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2MXjsFyhs7Y%3D&md5=fb951a458d2cc5a5f305789b923168e3CAS | 15858186PubMed |

[11]  Merryweather-Clarke A, Pointon JJ, Jouannolle AM, Rochette J, Robson K. Geography of HFE C282Y and H63D mutations. Genet Test 2000; 4 183–98.
Geography of HFE C282Y and H63D mutations.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3cXmtVWrtb8%3D&md5=bd10f96fc35cd540ae98e49f4a7fe710CAS | 10953959PubMed |

[12]  Cullen LM, Gao XJ, Easteal S, Jazwinska EC. The hemochromatosis 845 G→A and 187 C→G mutations: prevalence in non-Caucasian populations. Am J Hum Genet 1998; 62 1403–7.
The hemochromatosis 845 G→A and 187 C→G mutations: prevalence in non-Caucasian populations.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1cXlslCiu7w%3D&md5=19fa62a7133ca32f808c78324537efacCAS | 9585606PubMed |

[13]  Gurrin LC, Osborne NJ, Constantine CC, McLaren CE, English DR, Gertig DM, Delatycki MB, Southey MC, Hopper JL, Giles GG, Anderson GJ, Olynyk JK, Powell LW, Allen KJ. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008; 135 1945–52.
The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXht1ertr8%3D&md5=e5bff0753b3a20100511b7f23c708399CAS | 18848943PubMed |

[14]  McDonnell SM, Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC, Yip R. A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment. Am J Med 1999; 106 619–24.
A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DyaK1MzgsV2lsQ%3D%3D&md5=69602e70d63806837388d6e20f0cda3bCAS | 10378618PubMed |

[15]  Rogowski WH. The cost-effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study. Med Decis Making 2009; 29 224–38.
The cost-effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study.Crossref | GoogleScholarGoogle Scholar | 19182214PubMed |

[16]  Bryant J, Cooper K, Picot J, Clegg A, Roderick P, Rosenberg W, Patch C. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess 2009; 13 1
Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation.Crossref | GoogleScholarGoogle Scholar |

[17]  Cooper K, Bryant J, Picot J, Clegg A, Roderick PR, Rosenberg WM, Patch C. A decision analysis model for diagnostic strategies using DNA testing for hereditary haemochromatosis in at risk populations. Qjm-an Int J Med 2008; 101 631–41.
A decision analysis model for diagnostic strategies using DNA testing for hereditary haemochromatosis in at risk populations.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD1cvnslejtw%3D%3D&md5=a9507209300bc9f99830e67026be7491CAS |

[18]  Adams PC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterol Clin North Am 1995; 108 177–88.

[19]  Adams PC, Valberg LS. Screening for hemochromatosis in children of homozygotes: prevalence and cost-effectiveness. Hepatology 1995; 22 1720–7.
| 1:STN:280:DyaK28%2FovVyhug%3D%3D&md5=fa9a18c05601fd6bd503956791062218CAS | 7489980PubMed |

[20]  Phatak PD, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med 1994; 154 769–76.
Cost-effectiveness of screening for hereditary hemochromatosis.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DyaK2c7pslGisA%3D%3D&md5=d99316c7c7946d3197bbdde46921be27CAS | 8147681PubMed |

[21]  Schoffski O, Schmidtke J, Stuhrmann M. Cost-effectiveness of population-based genetic hemochromatosis screening. Community Genet 2000; 3 2–11.

[22]  Asberg A, Tretli S S, Hveem K, Bjerve KS. Benefit of population-based screening for phenotypic hemochromatosis in young men. Scand J Gastroenterol 2002; 37 1212–19.
Benefit of population-based screening for phenotypic hemochromatosis in young men.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD38nkvVyltA%3D%3D&md5=165e32b054c64dbac757136f6a13853bCAS | 12408528PubMed |

[23]  Buffone GJ, Beck JR. Cost-effectiveness analysis for evaluation of screening programs: hereditary hemochromatosis. Clin Chem 1994; 40 1631–6.
| 1:STN:280:DyaK2czitVegsA%3D%3D&md5=7d673562762c236ed3f6a0c250871fcfCAS | 8045021PubMed |

[24]  El-Serag HB, Inadomi JM, Kowdley KV. Screening for hereditary hemochromatosis in siblings and children of affected patients: a cost-effectiveness analysis. Ann Intern Med 2000; 132 261–9.
Screening for hereditary hemochromatosis in siblings and children of affected patients: a cost-effectiveness analysis.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD3c7jt1ehuw%3D%3D&md5=9e0bf32dbe9464cedc85a2409ec13bebCAS | 10681280PubMed |

[25]  Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359 211–18.
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA.Crossref | GoogleScholarGoogle Scholar | 11812557PubMed |

[26]  Whitlock EP, Garlitz BA, Harris EL, Beil TL, Smith PR. Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force. Ann Intern Med 2006; 145 209–23.
Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force.Crossref | GoogleScholarGoogle Scholar | 16880463PubMed |

[27]  Adams P, Brissot P, Powell L. EASL International Consensus Conference on Haemochromatosis: part II. Expert document. J Hepatol 2000; 33 487–96.
EASL International Consensus Conference on Haemochromatosis: part II. Expert document.Crossref | GoogleScholarGoogle Scholar |

[28]  Arya N, Chakrabrati S, Hegele RA, Adams PC. HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors. Blood Cells Mol Dis 1999; 25 354–7.
HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD3c7isl2rsQ%3D%3D&md5=3a4374b262be6a8179bb479452d5219cCAS | 10660483PubMed |

[29]  Aguilar-Martinez P, Bismuth M, Blanc F, Blanc P, Cunat S. The southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance. Haematologica 2010; 95 551–6.
The southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.Crossref | GoogleScholarGoogle Scholar | 20145272PubMed |

[30]  Gastroentorolgy Society of Australia. Haemochromatosis. Gastroentorolgy Society of Australia; 2007.

[31]  Adams P, Barton JC, McLaren GD, Acton RT, Speechley M, McLaren CE, Reboussin DM, Leiendecker-Foster C, Harris EL, Snively BM, Vogt T, Sholinsky P, Thomson E, Dawkins FW, Gordeuk VR, Eckfeldt JH. Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study. Can J Gastroenterol 2009; 23 769–72.
Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study.Crossref | GoogleScholarGoogle Scholar | 19893773PubMed |

[32]  Gasser B, Courtois F, Hojjat-Assari S, Sauleau EA, Buffet C, Brissot P. [Hereditary hemochromatosis: presenting manifestations and diagnostic delay.] Rev Med Interne 2014; 35 160–5.
[Hereditary hemochromatosis: presenting manifestations and diagnostic delay.]Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BC3srjt12nuw%3D%3D&md5=3a158921acb2aa29682f599bf3102a25CAS | 23566434PubMed |

[33]  Australian Government Department of Health and Ageing, Australian and New Zealand Horizon Scanning Network. Population genetic screening for haemochromatosis: identifying asymptomatic ‘at risk’ homozygous individuals. Horizon Scanning Prioritising Summary – Volume 1, A.H.T.A. (AHTA, Editor. 2004, AGDHA: Adelaide.

[34]  Allen KJ. Population genetic screening for hereditary haemochromatosis: are we a step closer? Med J Aust 2008; 189 300–1.
| 18803529PubMed |

[35]  Delatycki MB, Allen KJ, Nisselle AE, Collins V, Metcalfe S, du Sart D, Halliday J, Aitken MA, Macciocca I, Hill V, Wakefield A, Ritchie A, Gason AA, Nicoll AJ, Powell LW, Williamson R. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005; 366 314–6.
Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD2MzotlSmtA%3D%3D&md5=33ba587c5cd5f76a3bbb36514a18727bCAS | 16039334PubMed |

[36]  Tarricone R. Cost-of-illness analysis. What room in health economics? Health Policy 2006; 77 51–63.
Cost-of-illness analysis. What room in health economics?Crossref | GoogleScholarGoogle Scholar | 16139925PubMed |

[37]  Palmer AJ, Colman S, O’Leary B, Taylor BV, Simmons RD. The economic impact of multiple sclerosis in Australia in 2010. Mult Scler 2013; 19 1640–6.
The economic impact of multiple sclerosis in Australia in 2010.Crossref | GoogleScholarGoogle Scholar | 23652216PubMed |

[38]  Neil AL, Carr VJ, Mihalopoulos C, Mackinnin A, Morgan VA. Costs of psychosis in 2010: findings from the second Australian National Survey of Psychosis. Aust N Z J Psychiatry 2014; 48 169–82.
Costs of psychosis in 2010: findings from the second Australian National Survey of Psychosis.Crossref | GoogleScholarGoogle Scholar | 24097844PubMed |

[39]  Australian Government Department of Health. Schedule of pharmaceutical benefits 1 January 2015–31 January 2015. Canberra: Australian Government Department of Health; 2015.

[40]  Australian Government Department of Health. Medicare benefits schedule book. 2014.

[41]  Independent Hospital Pricing Authority (IHPA). National hospital cost data collection. Australian public hospitals cost report 2011–2012, Round 16. IHPA; 2014.

[42]  Australian Institute for Health and Welfare (AIHW). Health expenditure Australia 2012–13. Health and welfare expenditure series no. 52. Catalogue no. HWE 61. Canberra: AIHW; 2014.

[43]  Independent Hospital Pricing Authority. National non-admitted and subacute admitted costing study. Sydney: IHPA; 2014.

[44]  Drummond MF, Sculpher MJ, Torrance GW, O’Brien BJ, Stoddart GL. Methods for the economic evaluation of health care programmes. Oxford University Press; 2005.

[45]  Australian Bureau of Statistics (ABS). Survey of motor vehicle use, Australia 2013. Canberra: ABS; 2015.

[46]  Australian Institute of Petroleum. Annual retail price data. 2015 28/4/2015.

[47]  Kessler RC, Barber C, Beck A, Berglund P, Cleary P, McKenas D, Pronk N, Simon G, Stang P, Ustun TB, Wang P. The World Health Organization health and work performance questionnaire (HPQ). J Occup Environ Med 2003; 45 156–74.
The World Health Organization health and work performance questionnaire (HPQ).Crossref | GoogleScholarGoogle Scholar | 12625231PubMed |

[48]  Australian Bureau of Statistics (ABS). Employee earnings, benefits and trade union membership, Australia 2013. Canberra: ABS; 2014.

[49]  Sanderson K, Tilse E, Nicholson J, Oldenburg B, Graves N. Which presenteeism measures are more sensitive to depression and anxiety? J Affect Disord 2007; 101 65–74.
Which presenteeism measures are more sensitive to depression and anxiety?Crossref | GoogleScholarGoogle Scholar | 17156851PubMed |

[50]  Koopman C, Pelletier KR, Murray JF, Sharda CE, Berger ML, Turpin RS, Hackleman P, Gibson P, Holmes DM, Bendel T. Stanford presenteeism scale: health status and employee productivity. J Occup Environ Med 2002; 44 14–20.
Stanford presenteeism scale: health status and employee productivity.Crossref | GoogleScholarGoogle Scholar | 11802460PubMed |

[51]  Olynyk JK, Hagan SE, Cullen DJ, Beilby J, Whitall DE. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc 2004; 79 309–13.
Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study.Crossref | GoogleScholarGoogle Scholar | 15008603PubMed |

[52]  Andersen RV, Tybajaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 2004; 103 2914–19.
Hemochromatosis mutations in the general population: iron overload progression rate.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXjsVahu74%3D&md5=bc6ed00a160a7ef01859f95d011daadfCAS | 15070663PubMed |

[53]  Barber JA, Thompson SG. Analysis of cost data in randomized trials: an application of the non-parametric bootstrap. Stat Med 2000; 19 3219–36.
Analysis of cost data in randomized trials: an application of the non-parametric bootstrap.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD3M3kt12kuw%3D%3D&md5=66f11c5f7c3005b8bd71a5de4e48fc21CAS | 11113956PubMed |

[54]  Thompson SG, Barber JA. How should cost data in pragmatic randomised trials be analysed? BMJ 2000; 320 1197–200.
How should cost data in pragmatic randomised trials be analysed?Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD3c3kslSmsA%3D%3D&md5=f8c3c11dce66a697940aed77ea63b7c4CAS | 10784550PubMed |

[55]  Julious SA. Using confidence intervals around individual means to assess statistical significance between two means. Pharm Stat 2004; 3 217–22.
Using confidence intervals around individual means to assess statistical significance between two means.Crossref | GoogleScholarGoogle Scholar |

[56]  Asberg A, Hveem K, Kannelonning K, Irgens WO. Penetrance of the C28Y/C282Y genotype of the HFE gene. Scand J Gastroenterol 2007; 42 1073–7.
Penetrance of the C28Y/C282Y genotype of the HFE gene.Crossref | GoogleScholarGoogle Scholar | 17710673PubMed |

[57]  de Graaff B, Neil A, Sanderson K, Yee KC, Palmer AJ. Quality of life utility values for hereditary haemochromatosis in Australia. Health Qual Life Outcomes 2016;
Quality of life utility values for hereditary haemochromatosis in Australia.Crossref | GoogleScholarGoogle Scholar | 26922941PubMed |

[58]  Segal JE. Cost-of-illness studies: a primer. Center of Excellence in Health Promotion Economics; 2006.

[59]  Australian Institute for Health and Welfare (AIHW). Diabetes expenditure in Australia 2008–09. Catalogue no. CVD 62. Canberra: AIHW; 2013.