对未来献血者进行遗传性血色素沉着症筛查。

Screening for hereditary hemochromatosis in prospective blood donors.

作者信息

Benn H P, Nielsen P, Fischer R, Schwarz D, Engelhardt R, Darda C, Dittmer R, Knödler B, Gabbe E E, Kühnl P

机构信息

Abteilung Transfusionsmedizin und Transplantationsimmunologie, Universitätskrankenhaus Eppendorf, Universität Hamburg, Germany.

出版信息

Beitr Infusionsther Transfusionsmed. 1994;32:314-6.

PMID:9422115

Abstract

Prospective blood donors (n = 1,265, mean age 26 years) were screened for elevated serum ferritin and serum iron. Final diagnosis for hereditary hemochromatosis was made by liver iron concentration (noninvasive biomagnetometry), transferrin saturation, and 59Fe absorption in 3 male subjects. This preliminary result confirms for the first time the current frequency estimation of homozygous hemochromatosis (0.2-0.6%) in a group of young North-Germans.

摘要

对预期的献血者（n = 1265，平均年龄26岁）进行血清铁蛋白和血清铁升高的筛查。通过肝脏铁浓度（无创生物磁测量法）、转铁蛋白饱和度和3名男性受试者的59Fe吸收情况对遗传性血色素沉着症进行最终诊断。这一初步结果首次证实了一组年轻北德人群中纯合子血色素沉着症当前频率估计（0.2 - 0.6%）。