title: Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test.
abstract: OBJECTIVE
  To evaluate the feasibility of systematic neonatal screening for sickle cell disease in the region of Great Lakes in Central Africa using a new approach with limited costs.
  
  
  METHODS
  Between July 2004 and July 2006, 1825 newborn dried blood samples were collected onto filter papers in four maternity units from Burundi, Rwanda and the East of the Democratic Republic of Congo. We tested for the presence of haemoglobin C and S in the eluted blood by an enzyme-linked immunosorbent assay (ELISA) test using a monoclonal antibody. All ELISA-positive samples (multiple of the median (MoM) > or = 1.5) were confirmed by a simple molecular test. The statistica software version 7.1 was used to create graphics and to fix the MoM cut-off, and the chi(2) of Pearson was used to compare the genotype incidences between countries.
  
  
  RESULTS
  Of the 1825 samples screened, 97 (5.32%) were positive. Of these, 60 (3.28%) samples were heterozygous for Hb S, and four (0.22%) for Hb C; two (0.11%) newborns were Hb SS homozygotes.
  
  
  CONCLUSIONS
  The lower cost and the high specificity of ELISA test are appropriate for developing countries, and such systematic screening for sickle cell anaemia is therefore feasible.
authors.affiliation: Human Genetics, CHU, University of Liège, Liège, Belgium.
authors.forename: Léon
authors.initials: L
authors.lastname: Mutesa
authors.forename: François
authors.initials: F
authors.lastname: Boemer
authors.forename: Louis
authors.initials: L
authors.lastname: Ngendahayo
authors.forename: Stephen
authors.initials: S
authors.lastname: Rulisa
authors.forename: Emmanuel K
authors.initials: EK
authors.lastname: Rusingiza
authors.forename: Neniling
authors.initials: N
authors.lastname: Cwinya-Ay
authors.forename: Déogratias
authors.initials: D
authors.lastname: Mazina
authors.forename: Pierre C
authors.initials: PC
authors.lastname: Kariyo
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
authors.forename: Roland
authors.initials: R
authors.lastname: Schoos
mesh_terms: D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D002063:Burundi; D015023:Democratic Republic of the Congo; D004797:Enzyme-Linked Immunosorbent Assay / Q000379:methods*; D005240:Feasibility Studies; D005260:Female; D005838:Genotype; D006444:Hemoglobin C / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D012432:Rwanda; D012680:Sensitivity and Specificity
chemical_list: D006451:Hemoglobin, Sickle; D006444:Hemoglobin C