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J Clin Pathol. 2009 Jan;62(1):35-8. doi: 10.1136/jcp.2008.058958.

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

Author information

1
Centre Hospitalier Monkole (CHM), Kinshasa, Democratic Republic of the Congo. leon.tshilolo@gb-solution.cd

Abstract

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, 5,276 (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 betaS 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.

PMID:
19103857
DOI:
10.1136/jcp.2008.058958
[Indexed for MEDLINE]

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