Cruickshank M K, Ninness J, Curtis A, Barr R M, Flanagan P R, Ghent C N, Valberg L S
CMAJ. 1987 Jun 15;136(12):1259-64.
A study was carried out to determine the usefulness of erythrocyte ferritin analysis in identifying homozygotes and heterozygotes in families affected with hereditary hemochromatosis, an autosomal recessive disorder. To select the subjects the genotypes of 60 people from 26 affected families were determined by HLA-A and HLA-B haplotyping. In addition, data for 12 homozygotes for whom erythrocyte ferritin values were available from the literature were included. Likelihood analysis was used to evaluate the diagnostic value of erythrocyte ferritin analysis alone and in combination with serum ferritin testing. An erythrocyte ferritin value of 150 ag/cell or higher combined with a serum ferritin level above the 90th percentile indicated homozygosity, whereas a value of less than 150 ag/cell and a serum ferritin level at or below the 90th percentile indicated that homozygosity could be ruled out with a high degree of confidence. The probability of heterozygosity rose to 92% when the erythrocyte ferritin value was between 29 and 149 ag/cell and to 98% when this result was combined with a serum ferritin level at or below the 90th percentile. Erythrocyte ferritin analysis in combination with serum ferritin testing is useful for identifying homozygotes and a proportion of heterozygotes in families affected with hemochromatosis.
开展了一项研究，以确定红细胞铁蛋白分析在识别遗传性血色素沉着症（一种常染色体隐性疾病）家庭中的纯合子和杂合子时的效用。为选择研究对象，通过HLA - A和HLA - B单倍型分析确定了来自26个患病家庭的60人的基因型。此外，纳入了文献中可获取红细胞铁蛋白值的12名纯合子的数据。采用似然分析来评估单独的红细胞铁蛋白分析以及与血清铁蛋白检测联合使用时的诊断价值。红细胞铁蛋白值为150 ag/细胞或更高，且血清铁蛋白水平高于第90百分位数表明为纯合子，而低于150 ag/细胞且血清铁蛋白水平处于或低于第90百分位数表明可以高度确信排除纯合子。当红细胞铁蛋白值在29至149 ag/细胞之间时，杂合子的概率升至92%，当此结果与血清铁蛋白水平处于或低于第90百分位数相结合时，概率升至98%。红细胞铁蛋白分析与血清铁蛋白检测联合使用，有助于识别血色素沉着症家庭中的纯合子和一部分杂合子。
