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在一家婴儿福利诊所通过电泳对镰状细胞血红蛋白病进行常规筛查。

Routine screening for sickle cell haemoglobinopathy by electrophoresis in an infant welfare clinic.

作者信息

Omotade O O, Kayode C M, Falade S L, Ikpeme S, Adeyemo A A, Akinkugbe F M

机构信息

Institute of Child Health, College of Medicine, University of Ibadan, Nigeria.

出版信息

West Afr J Med. 1998 Apr-Jun;17(2):91-4.

PMID:9715113
Abstract

The experience of a Nigerian infant welfare clinic in offering sickle cell haemoglo-binopathy (SCH) screening by electrophoresis to its clinic population over a 12-year period is reported. Overall 10,115 children were screened. Homozygous haemoglobin S was detected in 3.1% and haemoglobin S + C in 1.1%. Carriers of the sickle cell gene (haemoglobin A + S) comprised 23.7% of the children screened. Gene frequencies for the A, S and C genes were 0.814, 0.155 and 0.031 respectively. The gene frequencies of the S and C genes were higher than those reported in infants and under-five children from other parts of Nigeria. Screening for sickle cell haemoglobinopathy in the first year of life through infant welfare clinics and 'well-baby' clinics as described in this report is suggested as a viable approach to the problems of detection (and genetic counselling) of SCH in developing countries with their scant resources. The advantages and limitations of this approach are discussed.

摘要

本文报告了一家尼日利亚婴儿福利诊所,在12年期间对前来就诊的人群采用电泳法进行镰状细胞血红蛋白病(SCH)筛查的经验。总共对10115名儿童进行了筛查。检测到纯合血红蛋白S的比例为3.1%,血红蛋白S + C的比例为1.1%。镰状细胞基因携带者(血红蛋白A + S)占筛查儿童的23.7%。A、S和C基因的基因频率分别为0.814、0.155和0.031。S和C基因的基因频率高于尼日利亚其他地区报道的婴儿及5岁以下儿童的基因频率。建议通过如本报告所述的婴儿福利诊所和“健康婴儿”诊所,在生命的第一年对镰状细胞血红蛋白病进行筛查,这是资源匮乏的发展中国家检测(以及遗传咨询)镰状细胞血红蛋白病问题的一种可行方法。本文还讨论了这种方法的优点和局限性。

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