对伯明翰地区八年半的新生儿血红蛋白病筛查情况的评估。
Evaluation of eight and a half years of neonatal screening for haemoglobinopathies in Birmingham.
作者信息
Griffiths P D, Mann J R, Darbyshire P J, Green A
机构信息
Children's Hospital, Birmingham.
出版信息
Br Med J (Clin Res Ed). 1988 Jun 4;296(6636):1583-5. doi: 10.1136/bmj.296.6636.1583.
Abstract
A pilot neonatal screening programme for haemoglobinopathies linked with screening for phenylketonuria and congenital hypothyroidism was reviewed. During 1978 to December 1986 137,000 neonates were tested. There were improvements in the detection rate and accuracy of diagnosis for homozygotes and mixed heterozygotes, mainly associated with the introduction of citrate agarose gel electrophoresis as a follow up procedure on all specimens showing any abnormality on the initial cellulose acetate electrophoresis. We recommend that the programme is continued on a service basis.
摘要
一项针对血红蛋白病的新生儿筛查试点项目进行了回顾，该项目与苯丙酮尿症和先天性甲状腺功能减退症的筛查相关。在1978年至1986年12月期间，对137,000名新生儿进行了检测。纯合子和混合杂合子的检出率和诊断准确性有所提高，这主要与引入柠檬酸盐琼脂糖凝胶电泳作为所有在初始醋酸纤维素电泳中显示任何异常的标本的后续检测程序有关。我们建议该项目继续作为一项常规服务开展。
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本文引用的文献
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