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中非地区镰状细胞病的新生儿筛查:一项针对1825名新生儿采用新型酶联免疫吸附测定法的研究。

Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test.

作者信息

Mutesa Léon, Boemer François, Ngendahayo Louis, Rulisa Stephen, Rusingiza Emmanuel K, Cwinya-Ay Neniling, Mazina Déogratias, Kariyo Pierre C, Bours Vincent, Schoos Roland

机构信息

Human Genetics, CHU, University of Liège, Liège, Belgium.

出版信息

J Med Screen. 2007;14(3):113-6. doi: 10.1258/096914107782066211.

Abstract

OBJECTIVES

To evaluate the feasibility of systematic neonatal screening for sickle cell disease in the region of Great Lakes in Central Africa using a new approach with limited costs.

METHODS

Between July 2004 and July 2006, 1825 newborn dried blood samples were collected onto filter papers in four maternity units from Burundi, Rwanda and the East of the Democratic Republic of Congo. We tested for the presence of haemoglobin C and S in the eluted blood by an enzyme-linked immunosorbent assay (ELISA) test using a monoclonal antibody. All ELISA-positive samples (multiple of the median (MoM) > or = 1.5) were confirmed by a simple molecular test. The statistica software version 7.1 was used to create graphics and to fix the MoM cut-off, and the chi(2) of Pearson was used to compare the genotype incidences between countries.

RESULTS

Of the 1825 samples screened, 97 (5.32%) were positive. Of these, 60 (3.28%) samples were heterozygous for Hb S, and four (0.22%) for Hb C; two (0.11%) newborns were Hb SS homozygotes.

CONCLUSIONS

The lower cost and the high specificity of ELISA test are appropriate for developing countries, and such systematic screening for sickle cell anaemia is therefore feasible.

摘要

目的

使用成本有限的新方法评估在中非大湖地区对镰状细胞病进行新生儿系统筛查的可行性。

方法

2004年7月至2006年7月期间,在布隆迪、卢旺达和刚果民主共和国东部的四个产科病房收集了1825份新生儿干血样本到滤纸上。我们使用单克隆抗体通过酶联免疫吸附测定(ELISA)试验检测洗脱血液中血红蛋白C和S的存在。所有ELISA阳性样本(中位数倍数(MoM)>或 = 1.5)均通过简单的分子检测进行确认。使用统计软件版本7.1创建图表并确定MoM截止值,并使用Pearson卡方检验比较各国之间的基因型发病率。

结果

在筛查的1825份样本中,97份(5.32%)呈阳性。其中,60份(3.28%)样本为Hb S杂合子,4份(0.22%)为Hb C杂合子;2名(0.11%)新生儿为Hb SS纯合子。

结论

ELISA试验成本较低且特异性高,适合发展中国家,因此对镰状细胞贫血进行这种系统筛查是可行的。

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