Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening
Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening
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DOI：
10.7326/0003-4819-129-11_part_2-199812011-00008
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发表时间：
1998-12-01
影响因子：
39.2
通讯作者：
Brittenham, G
中科院分区：
文献类型：
--
作者：
Cogswell, ME;McDonnell, SM;Brittenham, G
专家提倡使用转铁蛋白饱和试验进行血色素沉着症人群筛查，以便在临床疾病发作之前开始治疗性静脉切开术。与血色素沉着病相关的基因的发现使 DNA 检测成为筛查和诊断的另一种选择。在本文中，美国预防服务工作组的标准用于评估使用铁测量或基因检测进行人群筛查的有效性的证据。已发表的临床研究几乎没有提供证据表明使用基因检测进行血色病人群筛查可以改善临床结果。尽管最近发现的一种突变 C282Y 占一系列血色素沉着病患者的 60% 至 92%，但各种基因型的临床外显率仍存在不确定性；基因检测的准确性；以及基因检测的伦理、法律和社会影响。在建议使用转铁蛋白饱和测试进行人群血色病筛查之前，需要解决实验室标准化问题，并且需要解决有关具有突变或疾病早期生化表达的无症状人群的临床疾病风险的问题。病例系列的证据表明，血色素沉着症可能与肝癌、其他肝脏疾病、糖尿病、缓慢性心律失常和关节炎有关。然而，在所有研究中，只有一项研究对这种风险的程度和重要性的估计因缺乏足够的比较组而受到限制。需要人口数据来回答有关无症状者外显率的问题，不应妨碍对铁含量升高、有血色病家族史或有一致的早期体征和症状的人加强血色病的检测和治疗。
Population screening for hemochromatosis done by using the transferrin saturation test has been advocated by experts to permit the initiation of therapeutic phlebotomy before the onset of clinical disease. The discovery of a gene associated with hemochromatosis has made DNA testing another option for screening and diagnosis. In this paper, U.S. Preventive Services Task Force criteria are used to evaluate the evidence for the usefulness of population screening done by using iron measures or genetic testing.Published clinical research offers little evidence to suggest that population screening for hemochromatosis done by using genetic testing improves clinical outcomes. Although one recently discovered mutation, C282Y, accounts for 60% to 92% of cases of the disease in series of patients with hemochromatosis, uncertainties remain about the clinical penetrance of various genotypes; the accuracy of genetic testing; and the ethical, legal, and social effects of genetic testing. Before population screening for hemochromatosis done by using transferrin saturation testing can be recommended, laboratory standardization needs to be addressed and questions about risk for clinical disease in asymptomatic persons with mutations or early biochemical expression of disease require resolution. Evidence from case series suggests that hemochromatosis may be associated with liver cancer, other liver disease, diabetes, bradyarrhythmias, and arthritis. In ail studies but one, however, estimation of the magnitude and significance of this risk is limited by lack of adequate comparison groups. The need for population data to answer questions about penetrance among asymptomatic persons should not impede efforts to increase the detection and treatment of hemochromatosis in persons found to have elevated iron measures, a family history of hemochromatosis, or consistent early signs and symptoms of the disease.