Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels.
Since 1994, a neonatal screening programme for major haemoglobinopathies has been conducted in Brussels. We performed a 10-year re-evaluation of the incidence of haemoglobinopathies in Brussels and found that of the 118,366 newborns screened, 64 were diagnosed with a sickle cell syndrome, six had beta-thalassaemia major, four had a haemoglobin C disease and three had a haemoglobin H disease. Of the 64 babies with a sickle cell disease, two died before the age of two years and two did not present at the first neonatal visit. Of the six babies suffering from beta-thalassaemia major, all are alive and two have undergone a haematopoietic stem cell transplantation. The universal neonatal screening programme for haemoglobinopathies should be maintained in Brussels.
Gulbis
Béatrice
B
Laboratory of Clinical Chemistry, Cliniques Universitaires de Bruxelles Hôpital Erasme, Brussels, Belgium. bgulbis@ulb.ac.be
Ferster
Alina
A
Cotton
Frédéric
F
Lebouchard
Marie-Philippe
MP
Cochaux
Pascale
P
Vertongen
Fanchon
F
D000755:Anemia, Sickle Cell / Q000175:diagnosis; D001530:Belgium; D006444:Hemoglobin C / Q000096:biosynthesis; D006447:Hemoglobin H / Q000096:biosynthesis; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods*; D015997:Neonatal Screening / Q000379:methods*; D015995:Prevalence; D012189:Retrospective Studies; D013997:Time Factors; D017086:beta-Thalassemia / Q000175:diagnosis
D006444:Hemoglobin C; D006447:Hemoglobin H