STATISTICAL BASIS FOR HEMOCHROMATOSIS SCREENING

描述：（改编自研究者摘要）拟议的研究 项目旨在确定最佳值的转铁蛋白饱和度 用于遗传性血色病的人群筛查。 统计 混合模型将用于制定血色病指南 筛选制度，并确定基因的频率， 血色病 一旦被认为是一种罕见的疾病，血色素沉着症， 现在被认为是最常见的常染色体隐性遗传疾病之一， 白色人口。 大量的发病率和死亡率可能是由于 未经治疗的血色素沉着症;因此，早期发现和治疗是 具有本质意义 美国疾病控制和预防中心和学院 的美国病理学家现在建议定期筛查遗传性 血色病 转铁蛋白饱和度被认为是最好的单一 筛查测试，用于检测处于疾病风险中的个体。 拟议的研究旨在为以下方面提供统计基础 分析人口转铁蛋白饱和度以协助发展 血色病的最佳筛查方案 以确定潜在 筛选阈值，概率方法将应用于来自 第三次全国健康和营养检查调查（NHANES III），a 横截面概率样本加权代表美国 人口 统计混合模型将用于确定 潜在的转铁蛋白饱和筛选阈值，以确定 个人进行重复测试和可能的进一步评估。 实际 这些筛选阈值的灵敏度和特异性将被 评估使用的数据从一个单独的示范项目，“成本效益 初级保健中的血色病调查”，旨在确定个人 血色沉着病 此外，血色病的基因频率 对于白人和种族亚组，也将通过分析 转铁蛋白饱和度数据来自NHANES III。 该项目将有两个 具体目标如下：（1）制定使用 转铁蛋白饱和度和检测高危个体的相关试验 （2）确定血色素沉着症的基因频率， 在美国的血色素沉着症的统计混合建模 来自NHANES III的群体转铁蛋白饱和度数据。 调查人员 指出，为分析提供统计基础， 转铁蛋白饱和度应促进最佳， 用于识别个体的具有成本效益的筛查方案 需要进一步评估是否有血色沉着病

DESCRIPTION: (Adapted from Investigator's Abstract) The proposed research project is designed to determine optimal values for transferrin saturation for use in population screening for hereditary hemochromatosis. Statistical mixture modeling will be used to develop guidelines for hemochromatosis screening regimes and to determine the frequency of the gene for hemochromatosis. Once considered to be a rare disorder, hemochromatosis is now recognized to be one of the most common autosomal recessive disorders in white populations. Substantial morbidity and mortality may result from untreated hemochromatosis; thus, early detection and treatment are essential. The Centers for Disease Control and Prevention and the College of American Pathologists now recommend regular screening for hereditary hemochromatosis. Transferrin saturation is regarded as the best single screening test for the detection of individuals at risk for the disorder. The proposed research is designed to provide a statistical foundation for the analysis of population transferrin saturations to assist in development of optimal screening regimens for hemochromatosis. To determine potential screening thresholds, probability methods will be applied to data from the third National Health and Nutrition Examination Survey (NHANES III), a cross-sectional probability sample weighted to represent the U.S. population. Statistical mixture modeling will be used to determine potential transferrin saturation screening thresholds to identify individuals for repeat testing and possible further evaluation. The actual sensitivity and specificity of these screening thresholds will then be assessed using data from a separate demonstration project, "Cost effective Hemochromatosis Survey in Primary Care", designed to identify individuals with hemochromatosis. In addition, the gene frequency for hemochromatosis for whites and ethnic subgroups will also be determined by analysis of transferrin saturation data from NHANES III. This project will have two specific aims, as follow: (1) to develop guidelines for the use of transferrin saturation and related tests in detection of individuals at risk for hemochromatosis, and (2) to determine the frequency of the gene for hemochromatosis in the United States by statistical mixture modeling of population transferrin saturation data from NHANES III. The investigators state that providing the statistical foundation for the analysis of transferrin saturations should facilitate development of optimal, cost-effective screening regimens for identification of individuals requiring further evaluation for hemochromatosis.