血红蛋白病新生儿筛查方法简述及通过定量估计 HbA 分数筛选出生β-地中海贫血携带者的初步结果。
A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction.
机构信息
Human and Clinical Genetics Department, Hemoglobinopathies Laboratory, Leiden University Medical Center, O and O Building, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands, PO Box 9600, 2300 RC Leiden, The Netherlands.
出版信息
Clin Biochem. 2009 Dec;42(18):1780-5. doi: 10.1016/j.clinbiochem.2009.08.018. Epub 2009 Sep 3.
OBJECTIVES
We present in a brief summary the basic aspects of the most rational technologies used for new born screening (NBS) of the hemoglobinopathies and we report the preliminary results for the identification of beta-thalassemia carriers at birth by measuring the expression of the HbA fraction.
DESIGN AND METHODS
Separation and measurement of the Hb fractions in 1.500 cord blood samples collected among the multi-ethnic Dutch population using different methods.
RESULTS
By using a cut of <15% HbA we have found 4 carriers of point mutations defects 3 of which among a group of 34 newborns of ethnic origin and one among 120 north Europeans.
DISCUSSION
All methods for NBS summarized in this paper provide identification at practically 100% sensitivity and high specificity. However, all methods should be followed by routine parent's analysis to confirm the provisional results. Taking into consideration the gestation age and the HbA expression, we believe that carriers of beta-thalassemia can be preselected at birth with a reasonable degree of sensitivity and be confirmed by parent analysis.
目的
简要总结血红蛋白病新生儿筛查（NBS）中最合理的技术的基本方面，并报告通过测量 HbA 分数来鉴定β-地中海贫血携带者的初步结果。
设计和方法
使用不同方法从荷兰多民族人群的 1500 份脐带血样本中分离和测量 Hb 分数。
结果
使用<15%HbA 的切点，我们发现了 4 名点突变缺陷的携带者，其中 3 名来自 34 名出生于特定族群的新生儿，1 名来自 120 名北欧人。
讨论
本文总结的所有 NBS 方法均提供了几乎 100%的敏感性和高特异性的鉴定。然而，所有方法都应通过常规的父母分析来确认暂定结果。考虑到胎龄和 HbA 的表达，我们认为β-地中海贫血的携带者可以在出生时以合理的敏感性进行预选，并通过父母分析来确认。
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