Bassett M L, Leggett B A, Halliday J W, Webb S, Powell L W
Gastroenterology Unit, Canberra Hospital, Australia.
J Hepatol. 1997 Sep;27(3):517-24. doi: 10.1016/s0168-8278(97)80357-1.
To estimate the cost of population screening for haemochromatosis in Australia and to compare the cost of alternative screening strategies.
The costs of screening for haemochromatosis were analysed in a hypothetical study using transferrin saturation as the primary screening test, with confirmation of the diagnosis by either liver biopsy or DNA testing for the recently-described haemochromatosis gene.
Screening, with confirmation of the diagnosis by liver biopsy, would cost between US$5079 and US$8813 per case detected (excluding administrative costs), depending on the screening strategy (Aust$ = US$0.80). If a DNA test were used instead of liver biopsy, the cost would be reduced to an estimated US$3954-US$4410 per case. This would be further reduced to US$2457 by detection of additional cases by screening family members. The least costly strategy utilised a transferrin saturation threshold of 55% and DNA testing for confirmation of the diagnosis; however, a transferrin saturation threshold of 45% increased the cost only marginally. The initial screening step (transferrin saturation) accounted for 74%-94% of the estimated cost of the screening programme.
Screening for haemochromatosis using transferrin saturation involves relatively modest costs which may be recovered if complications of haemochromatosis can be prevented by early detection and treatment. The most cost-effective strategies utilised transferrin saturation for initial screening, followed by DNA testing. Reduction in the cost of transferrin saturation would lead to a significant reduction in total screening costs. Additional benefits of a screening programme include detection of other iron overload disorders and iron deficiency.
评估澳大利亚人群血色素沉着症筛查的成本，并比较不同筛查策略的成本。
在一项假设研究中分析血色素沉着症筛查的成本，以转铁蛋白饱和度作为主要筛查测试，并通过肝活检或针对最近发现的血色素沉着症基因的DNA检测来确诊。
通过肝活检确诊的筛查，每检测出一例的成本在5079美元至8813美元之间（不包括行政成本），具体取决于筛查策略（澳元=0.80美元）。如果使用DNA检测而非肝活检，每例成本将降至估计的3954美元至4410美元。通过筛查家庭成员发现更多病例，成本将进一步降至2457美元。成本最低的策略是使用55%的转铁蛋白饱和度阈值并进行DNA检测以确诊；然而，45%的转铁蛋白饱和度阈值只会使成本略有增加。初始筛查步骤（转铁蛋白饱和度）占筛查计划估计成本的74% - 94%。
使用转铁蛋白饱和度进行血色素沉着症筛查成本相对适中，如果能通过早期检测和治疗预防血色素沉着症的并发症，成本可能得以收回。最具成本效益的策略是先用转铁蛋白饱和度进行初始筛查，然后进行DNA检测。降低转铁蛋白饱和度检测的成本将导致总筛查成本大幅降低。筛查计划的其他益处包括发现其他铁过载疾病和缺铁情况。
