Distribution of transferrin saturation in an Australian population: Relevance to the early diagnosis of hemochromatosis
Distribution of transferrin saturation in an Australian population: Relevance to the early diagnosis of hemochromatosis
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DOI：
10.1016/s0016-5085(98)70538-4
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发表时间：
1998-03-01
期刊：
影响因子：
29.4
通讯作者：
Powell, LW
中科院分区：
文献类型：
--
作者：
McLaren, CE;McLachlan, GJ;Powell, LW
背景与目的：转铁蛋白饱和度升高是遗传性血色病最早的表型异常。转铁蛋白饱和度的测定仍然是最有用的非侵入性筛查受影响的个人，但有争议的适当筛选水平。本研究的目的是估计平均转铁蛋白饱和度在血色病杂合子和正常人，并评估潜在的转铁蛋白饱和度筛查水平。研究方法：统计混合模型应用于无症状的澳大利亚人的调查数据，以估计在血色病杂合子和正常人的平均转铁蛋白饱和度。为了评估潜在的转铁蛋白饱和筛选水平，将建模结果与来自确定的血色病杂合子和纯合子的数据进行比较。结果如下：在去除血色素沉着症纯合子后，在无症状的澳大利亚人中发现了两个转铁蛋白饱和的群体（P < 0.01）。在男性中，88.2%的截短样本的平均转铁蛋白饱和度较低，为24.1%，而11.8%的平均转铁蛋白饱和度增加，为37.3%。在女性中也发现了类似的结果，45%的转铁蛋白饱和度阈值识别了98%的纯合子，而没有错误识别任何正常个体。结论：结果证实，血色素沉着症杂合子形成一个独特的转铁蛋白饱和亚群，并支持使用转铁蛋白饱和度作为一个廉价的血色素沉着症筛查试验。在实践中，空腹转铁蛋白饱和度大于或等于45%识别几乎所有受影响的纯合子受试者，而不需要进一步研究未受影响的正常个体。
Background & Aims: An elevated transferrin saturation is the earliest phenotypic abnormality in hereditary hemochromatosis. Determination of transferrin saturation remains the most useful noninvasive screening test for affected individuals, but there is debate as to the appropriate screening level. The aims of this study were to estimate the mean transferrin saturation in hemochromatosis heterozygotes and normal individuals and to evaluate potential transferrin saturation screening levels. Methods: Statistical mixture modeling was applied to data from a survey of asymptomatic Australians to estimate the mean transferrin saturation in hemochromatosis heterozygotes and normal individuals. To evaluate potential transferrin saturation screening levels, modeling results were compared with data from identified hemochromatosis heterozygotes and homozygotes. Results: After removal of hemochromatosis homozygotes, two populations of transferrin saturation were identified in asymptomatic Australians (P < 0.01). In men, 88.2% of the truncated sample had a lower mean transferrin saturation of 24.1%, whereas 11.8% had an increased mean transferrin saturation of 37.3%. Similar results were found in women, A transferrin saturation threshold of 45% identified 98% of homozygotes without misidentifying any normal individuals. Conclusions: The results confirm that hemochromatosis heterozygotes form a distinct transferrin saturation subpopulation and support the use of transferrin saturation as an inexpensive screening test for hemochromatosis. In practice, a fasting transferrin saturation of greater than or equal to 45% identifies virtually all affected homozygous subjects without necessitating further investigation of unaffected normal individuals.