O'Hara R, Cavanagh N, Cassidy M, Cullina M
Biochemistry Laboratory, Portiuncula Hospital Ballinasloe, Co Galway, Ireland.
Ann Clin Biochem. 2003 Mar;40(Pt 2):169-74. doi: 10.1258/000456303763046111.
Genetic studies have indicated a high prevalence of mutations for hereditary haemochromatosis (HH) in Irish populations. Given the high cost of genetic screening and the ethical implications thereof, we assessed the role of transferrin saturation (TS) as a primary screening test for HH in an Irish population seeking medical care.
TS and ferritin were measured on 330 consecutive blood specimens received in the laboratory for routine screening. Patients with TS > 45% were genetically screened for the C282Y and H63D mutations.
Twenty-six patients had TS values > 45%. Of these, specimens were available for genetic screening on 20 patients. Three previously undiagnosed patients were found to be C282Y homozygotes and one a compound heterozygote (C282Y/H63D). The prevalence of C282Y homozygotes was 0.93%, which is similar to the reported prevalence found in Irish populations by genetic screening.
Given the number of positive findings in this study, we conclude that, in the absence of a national programme, TS could be used as part of a health-screening panel in the Irish setting. Patients expressing iron overload would be detected before organ damage occurred, leading to less severe clinical disease and better patient prognosis.
基因研究表明爱尔兰人群中遗传性血色素沉着症（HH）的突变患病率很高。鉴于基因筛查成本高昂及其伦理影响，我们评估了转铁蛋白饱和度（TS）作为爱尔兰寻求医疗护理人群中HH初步筛查试验的作用。
对实验室收到的330份连续血样进行TS和铁蛋白检测，用于常规筛查。对TS>45%的患者进行C282Y和H63D突变的基因筛查。
26例患者TS值>45%。其中，20例患者的样本可用于基因筛查。发现3例先前未确诊的患者为C282Y纯合子，1例为复合杂合子（C282Y/H63D）。C282Y纯合子的患病率为0.93%，与基因筛查在爱尔兰人群中报告的患病率相似。
鉴于本研究中的阳性结果数量，我们得出结论，在没有国家计划的情况下，TS可作为爱尔兰健康筛查小组的一部分使用。在器官损伤发生之前，就可以检测到有铁过载表现的患者，从而使临床疾病不那么严重，患者预后更好。
