Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study
Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study
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DOI：
10.1097/01.gim.0000245631.07117.ac
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发表时间：
2006-11-01
影响因子：
8.8
通讯作者：
Adams, Paul
中科院分区：
文献类型：
--
作者：
Anderson, Roger T.;Wenzel, Lari;Adams, Paul
目的：评估接受不确定的血色病检测结果对生活质量的影响，血色病是一种涉及HFE基因突变和/或血清转铁蛋白饱和度和铁蛋白升高的疾病。研究方法：研究样本来自血色素沉着症和铁超负荷筛查研究，这是一项在美国和加拿大的初级保健患者中使用HFE基因型和血清转铁蛋白饱和度以及铁蛋白筛查进行的血色素沉着症大型观察性研究。研究对象包括2，304名被发现患有临床意义不确定的血色病风险的患者。在筛选前和参与者收到测试结果后六周，评估SF-36一般健康和情绪健康。筛查后评估健康担忧。结果：在研究受试者中，1，268名参与者（51.5%）完成了两项评估。与正常对照组相比，HFE突变或血清转铁蛋白饱和度和铁蛋白水平升高的患者更有可能报告总体健康状况和精神健康状况下降，以及更多的健康担忧。这些影响与参与者认为血色素沉着症或铁超载测试呈阳性有关。结论：筛查不确定结果的通知可能与对健康的轻度负面影响相关，并且可能是基因型-表型不确定疾病筛查计划的潜在参与者风险。
Purpose: Assess the quality of life impact of receiving indeterminate test results for hemochromatosis, a disorder involving HFE genetic mutations and/or elevated serum transferrin saturation and ferritin. Methods: The study sample was from the Hemochromatosis and Iron Overload Screening Study, a large observational study of hemochromatosis among primary care patients in the US and Canada using HFE genotype and serum transferrin saturation and ferritin screening. Study subjects included 2,304 patients found with hemochromatosis risk of uncertain clinical significance. Assessed was SF-36 general health and emotional well-being before screening and six weeks after participants received their test results. Health worries were assessed after screening. Results: Of the study subjects, 1,268 participants (51.5%) completed both assessments. Compared to normal controls, those with HFE mutations or elevated serum transferrin saturation and ferritin levels of uncertain significance were more likely to report diminished general health and mental well-being, and more health worries. These effects were associated with participants' belief of having tested positive for hemochromatosis or iron overload. Conclusion: Notification of indeterminate results from screening may be associated with mild negative effects on well-being, and might be a potential participant risk in screening programs for disorders with uncertain genotype-phenotype.