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Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns
  1. L Tshilolo1,4,
  2. L M Aissi2,
  3. D Lukusa2,
  4. C Kinsiama3,
  5. S Wembonyama4,
  6. B Gulbis5,
  7. F Vertongen5
  1. 1Centre Hospitalier Monkole (CHM), Kinshasa, Democratic Republic of the Congo
  2. 2Centre de Formation et d’Appui Sanitaire (CEFA), Kinshasa, Democratic Republic of the Congo
  3. 3Unité de Dépistage de la Drépanocytose, CHM, Kinshasa, Democratic Republic of the Congo
  4. 4Université de Lubumbashi (UNILU), Département de Pédiatrie, Lubumbashi, Democratic Republic of the Congo
  5. 5Laboratory of Clinical Chemistry, Hôpital Erasme, ULB, Brussels, Belgium
  1. Dr Léon Tshilolo, Centre Hospitalier Monkole, HGR de Mt Nfafula, Avenue Ngafani, 4804, BP 817 Kin XI, Kinshasa, Democratic Republic of the Congo; leon.tshilolo{at}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, 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 βS 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.

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Footnotes

  • Competing interests: None.

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