Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns

被引:116
作者
Tshilolo, L. [1 ]
Aissi, L. M. [2 ]
Lukusa, D. [2 ]
Kinsiama, C. [3 ]
Wembonyama, S. [4 ]
Gulbis, B. [5 ]
Vertongen, F. [5 ]
机构
[1] Ctr Hosp Monkole, HGR Mt Nfafula, Kinshasa, DEM REP CONGO
[2] Ctr Format & Appui Sanitaire CEFA, Kinshasa, DEM REP CONGO
[3] CHM, Unite Depistage Drepanocytose, Kinshasa, DEM REP CONGO
[4] Univ Lubumbashi UNILU, Dept Pediat, Lubumbashi, DEM REP CONGO
[5] ULB, Hop Erasme, Clin Chem Lab, Brussels, Belgium
关键词
AFRICA; GENE;
D O I
10.1136/jcp.2008.058958
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:35 / 38
页数:4
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