Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns
Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns
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DOI：
10.1136/jcp.2008.058958
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发表时间：
2009-01-01
影响因子：
3.4
通讯作者：
Vertongen, F.
中科院分区：
文献类型：
--
作者：
Tshilolo, L.;Aissi, L. M.;Vertongen, F.
目的：描述我们在刚果民主共和国对31 304名新生儿进行系统筛查的经验。方法：用干滤纸片薄层等电聚焦方法测定新生儿血红蛋白病的患病率。结果：在31 204名新生儿中，5276名(16.9%)具有镰状细胞特征，428名(1.4%)为纯合子，不同民族、不同语言、不同民族、不同语言的新生儿之间无统计学差异。但一些部落表现出更高的Sβ基因患病率，这归因于疟疾的更高患病率，以及更高的血红蛋白S纯合子频率，部分原因是内婚婚姻制度。结论：刚果民主共和国现已引入新生儿筛查计划，但主要挑战是追踪所有新病例进行确证测试并启动早期管理。
Background: Despite the high prevalence of sickle cell disease in Africa, a neonatal screening programme is available in only a few countries in the sub-Saharan region.Aim: To describe our experience of a pioneer study on 31 304 newborns screened systematically in the Democratic Republic of the Congo.Methods: The prevalence of haemoglobinopathies was determined by a thin-layer isoelectric focusing method on dry filter-paper samples.Results: Of the 31 204 newborns screened by isoelectric focusing, 5276 (16.9%) displayed sickle cell trait and 428 (1.4%) were homozygous for haemoglobin S. No statistical differences were observed in the different ethno-linguistic groups, but some tribes displayed a higher prevalence of the beta S gene, attributable to a higher prevalence of malaria, and a greater frequency of haemoglobin S homozygotes, in part attributable to an endogamic marriage system.Conclusion: The neonatal screening programme has now been introduced in the Democratic Republic of the Congo, but the main challenges are to track all the new cases for a confirmatory test and to initiate early management.