title: Universal newborn screening for haemoglobinopathies in Guadeloupe (French West Indies): a 27-year experience.
abstract: OBJECTIVE
  In Guadeloupe, an island in the French West Indies, a universal newborn screening programme for sickle cell disease and other abnormal haemoglobins was initiated in 1984. In 1990, a comprehensive sickle cell centre was established to carry on the management programme. We here report the main results from the newborn screening programme from 1984 to 2010, and consider how the establishment of the sickle cell centre affected the programme.
  
  
  METHODS
  All blood samples were screened for the haemoglobinopathies using two reference methods in a single reference diagnosis laboratory. DNA analyses were also performed for confirmatory tests and analysis of the globin gene status.
  
  
  RESULTS
  Between 1 January 1984 and 31 December 2010, 178,428 newborns were screened at birth, and 585 children were diagnosed with major sickle cell syndromes (ie. an overall incidence of 1 in 304 births). Sickle cell anaemia (haemoglobin SS disease) was the most frequently observed (1 in 575 births), followed by haemoglobin SC disease (1 in 771 births) and haemoglobin Sβ-thalassemia disease (1 in 4,243 births). Some other rare haemoglobin variants were also detected, the most common being HbD(Punjab). The establishment of a comprehensive sickle cell centre resulted in a significant improvement in the screening coverage (p < 0.001) and a significant reduction of the delay between diagnosis and the first medical visit (p < 0.001).
  
  
  CONCLUSIONS
  The universal screening programme has made it possible to establish the incidence of the major sickle cell syndromes in Guadeloupe, and the management centre has improved its efficiency.
authors.affiliation: Centre Hospitalier Universitaire de Pointe-à-Pitre/Abymes, Laboratoire de Génétique Moléculaire et Pathologies Héréditaires du Globule Rouge, Guadeloupe, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Saint-Martin
authors.forename: Marc
authors.initials: M
authors.lastname: Romana
authors.forename: Alix
authors.initials: A
authors.lastname: Bibrac
authors.forename: Karine
authors.initials: K
authors.lastname: Brudey
authors.forename: Vanessa
authors.initials: V
authors.lastname: Tarer
authors.forename: Lydia
authors.initials: L
authors.lastname: Divialle-Doumdo
authors.forename: Marie
authors.initials: M
authors.lastname: Petras
authors.forename: Lisiane
authors.initials: L
authors.lastname: Keclard-Christophe
authors.forename: Sandrine
authors.initials: S
authors.lastname: Lamothe
authors.forename: Cédric
authors.initials: C
authors.lastname: Broquere
authors.forename: Maryse
authors.initials: M
authors.lastname: Etienne-Julan
mesh_terms: D005260:Female; D005787:Gene Frequency / Q000235:genetics; D019430:Guadeloupe / Q000453:epidemiology; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D055542:alpha-Globins; D055544:beta-Globins
keywords: Guadeloupe (FWI); Universal newborn screening; haemoglobinopathies; management programme