Lorey F, Cunningham G, Shafer F, Lubin B, Vichinsky E
Genetic Disease Branch, California Department of Health Services, Berkeley.
Eur J Hum Genet. 1994;2(4):262-71. doi: 10.1159/000472370.
In screening for hemoglobinopathies, high-performance liquid chromatography (HPLC) achieves excellent sensitivity and specificity, while adding the very important quantitative element to the analysis. Due to the development of a rapid, automated HPLC system, California began screening 600,000 births per year in 1990 using this method. Based on confirmatory testing for 97% of the initial positive results resulting from 2.2 million screens, HPLC has proven to be clinically accurate. In conjunction with the availability of quantitative data, HPLC provides a complete screening system, eliminating the need for a second screening test, and accurately discriminating beta thalassemia compound conditions. The large degree of ethnic diversity and high birth rate in California have produced detailed and reliable birth prevalence rates for most conditions and ethnicities.
在血红蛋白病筛查中，高效液相色谱法（HPLC）具有出色的灵敏度和特异性，同时为分析增添了非常重要的定量元素。由于快速自动化HPLC系统的发展，加利福尼亚州于1990年开始每年使用这种方法对60万例新生儿进行筛查。基于对220万次筛查产生的97%的初始阳性结果进行的确诊检测，HPLC已被证明在临床上是准确的。结合定量数据的可用性，HPLC提供了一个完整的筛查系统，无需进行二次筛查测试，并能准确区分β地中海贫血复合病症。加利福尼亚州的种族多样性程度高和出生率高，使得大多数病症和种族都有详细且可靠的出生患病率数据。
