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.
