Introduction: Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting.

Methods: A Markov model using probabilistic decision analysis was developed comparing four adult screening strategies: the status quo (cascade and incidental screening), genotyping with blood and buccal samples and transferrin saturation followed by genotyping (TfS). Target populations were males (30 years) and females (45 years) of northern European ancestry. Cost-effectiveness was estimated from the government perspective over a lifetime horizon.

Results: All strategies for males were cost-effective compared to the status quo. The incremental costs (standard deviation) associated with genotyping (blood) were AUD7 (56), TfS AUD15 (45) and genotyping (buccal) AUD63 (56), producing ICERs of AUD1673, 4103 and 15,233/quality-adjusted life-year (QALY) gained, respectively. For females, only the TfS strategy was cost-effective, producing an ICER of AUD10,195/QALY gained. Approximately 3% of C282Y homozygotes were estimated to be identified with the status quo approach, compared with 40% with the proposed screening strategies.

Conclusion: This model estimated that genotyping and TfS strategies are likely to be more cost-effective screening strategies than the status quo.

Item Type:	Refereed Article
Keywords:	aaemochromatosis, screening, cost-effectiveness
Research Division:	Economics
Research Group:	Applied Economics
Research Field:	Health Economics
Objective Division:	Health
Objective Group:	Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:	Blood Disorders
UTAS Author:	de Graaff, B (Ms Barbara de Graaff)
UTAS Author:	Neil, A (Dr Amanda Neil)
UTAS Author:	Si, L (Mr Lei Si)
UTAS Author:	Yee, KC (Dr Kwang Yee)
UTAS Author:	Sanderson, K (Associate Professor Kristy Sanderson)
UTAS Author:	Palmer, AJ (Professor Andrew Palmer)
ID Code:	114105
Year Published:	2017 (online first 2016)
Web of Science® Times Cited:	3
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2017-02-06
Last Modified:	2017-11-29
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