title: Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns.
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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Centre Hospitalier Monkole (CHM), Kinshasa, Democratic Republic of the Congo. leon.tshilolo@gb-solution.cd
authors.forename: L
authors.initials: L
authors.lastname: Tshilolo
authors.forename: L M
authors.initials: LM
authors.lastname: Aissi
authors.forename: D
authors.initials: D
authors.lastname: Lukusa
authors.forename: C
authors.initials: C
authors.lastname: Kinsiama
authors.forename: S
authors.initials: S
authors.lastname: Wembonyama
authors.forename: B
authors.initials: B
authors.lastname: Gulbis
authors.forename: F
authors.initials: F
authors.lastname: Vertongen
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000453:epidemiology; D015023:Democratic Republic of the Congo / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods* / Q000458:organization & administration; D015995:Prevalence; D015397:Program Evaluation