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在布伦特筛查脐带血中的镰状血红蛋白病。

Screening cord blood for sickle haemoglobinopathies in Brent.

作者信息

Henthorn J, Anionwu E, Brozovic M

出版信息

Br Med J (Clin Res Ed). 1984 Aug 25;289(6443):479-80. doi: 10.1136/bmj.289.6443.479.

Abstract

Between 1981 and 1983, 3165 consecutive specimens of cord blood were tested at the Central Middlesex Hospital for the presence of an abnormal haemoglobin: the incidence of sickle cell trait was 2.8%, of HbC trait 0.9%, and the overall incidence of an abnormal haemoglobin at birth was 6.9%. Five babies with homozygous sickle cell disease, three with HbSC, and three with either HbCC or HbC beta thalassaemia were detected. Twenty two per cent of the mothers were of Afro-Caribbean origin. The cost of the test was 30p. An H6000 blood count was carried out on 1000 consecutive cord blood samples. The mean red cell volume was 97.95 (SD 3.67) fl. Thirteen cord blood samples had a mean cell volume below 85 fl, and all contained Hb Barts. In addition, six samples with a mean cell volume between 86 and 92 fl also showed Hb Barts on electrophoresis. The overall incidence of Hb Barts was 2.1%. These results indicate that the incidence of HbSS and HbSC on neonatal screening in Brent is similar to that found in the urban areas of North America and that the number may be predicted from the number of births to mothers of Afro-Caribbean origin.

摘要

1981年至1983年间,米德尔塞克斯中心医院对3165份连续采集的脐带血样本进行了异常血红蛋白检测:镰状细胞性状的发生率为2.8%,HbC性状的发生率为0.9%,出生时异常血红蛋白的总发生率为6.9%。检测出5例纯合子镰状细胞病婴儿、3例HbSC婴儿以及3例HbCC或HbCβ地中海贫血婴儿。22%的母亲来自非洲加勒比地区。检测费用为30便士。对1000份连续采集的脐带血样本进行了H6000血细胞计数。平均红细胞体积为97.95(标准差3.67)飞升。13份脐带血样本的平均细胞体积低于85飞升,且均含有Hb Barts。此外,6份平均细胞体积在86至92飞升之间的样本在电泳时也显示有Hb Barts。Hb Barts的总发生率为2.1%。这些结果表明,布伦特地区新生儿筛查中HbSS和HbSC的发生率与北美城市地区相似,且该数字可根据非洲加勒比裔母亲的生育数量进行预测。

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Screening cord blood for sickle haemoglobinopathies in Brent.在布伦特筛查脐带血中的镰状血红蛋白病。
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