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在大规模筛查方法中使用毛细血管血样来检测β地中海贫血和血红蛋白变异体。

The use of capillary blood samples in a large scale screening approach for the detection of beta-thalassemia and hemoglobin variants.

作者信息

Bento Celeste, Relvas Luís, Vazão Helena, Campos Joana, Rebelo Umbelina, Ribeiro Maria Letícia

出版信息

Haematologica. 2006 Nov;91(11):1565.

Abstract

Hemoglobinopathies are priority genetic diseases for prevention programs in at-risk populations. We implemented an accurate and simple methodology to identify hemoglobin (Hb) variants and to quantify HbA2 and HbF in capillary blood samples stored at room temperature for up to 7 days after collection. This methodology is particularly indicated for screening for carriers in primary care medical centers in which facilities for collecting venous blood are not available.

摘要

血红蛋白病是高危人群预防项目中的重点遗传疾病。我们实施了一种准确且简单的方法,用于鉴定血红蛋白(Hb)变体,并对采集后在室温下保存长达7天的毛细血管血样中的HbA2和HbF进行定量。这种方法特别适用于在没有采集静脉血设施的基层医疗中心筛查携带者。

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