Frost B A, Bellingham A J
Department of Haematology, School of Medicine and Dentistry, King's College Hospital, London, U.K.
Acta Haematol. 1987;78(2-3):142-3. doi: 10.1159/000205864.
The current practice of cord blood screening was found to be missing 14.3% of 'at risk' infants identified for screening in the antenatal period, largely due to failure of sample collection. The possibility of including haemoglobinopathy screening into the already established Guthrie card screening system for phenylketonuria and hypothyroidism was investigated, using haemoglobin electrophoresis on cellulose acetate membranes, citrate agar gel and isoelectric focussing in polyacrylamide gel. Denaturation of blood once dried onto filter paper made the standard electrophoresis techniques unsuitable, whilst isoelectric focussing gave clear separation of all bands and was therefore accepted as the method of choice.
目前发现,脐带血筛查的实际操作遗漏了产前确定为筛查对象的“高危”婴儿中的14.3%,这主要是由于样本采集失败。研究了将血红蛋白病筛查纳入已建立的用于苯丙酮尿症和甲状腺功能减退症的古思里卡片筛查系统的可能性,采用在醋酸纤维素膜、柠檬酸盐琼脂凝胶上进行血红蛋白电泳以及在聚丙烯酰胺凝胶中进行等电聚焦。一旦血液干燥在滤纸上,其变性使得标准电泳技术不合适,而等电聚焦能清晰分离所有条带,因此被接受为首选方法。