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Published on: August 24, 2011
Neonatal haemoglobinopathy screening: review of a 10-year programme in Brussels
Béatrice Gulbis1, Alina Ferster, Frédéric Cotton
1Laboratory of Clinical Chemistry, Cliniques Universitaires de Bruxelles Hôpital Erasme, Brussels, Belgium. bgulbis@ulb.ac.be
Insights
Brussels
Area of Science:
- Medical Genetics
- Paediatrics
- Public Health
Background:
- A neonatal screening program for haemoglobinopathies has been active in Brussels since 1994.
- Haemoglobinopathies represent a significant public health concern, necessitating effective screening strategies.
Purpose of the Study:
- To re-evaluate the incidence of major haemoglobinopathies in Brussels over a 10-year period.
- To assess the outcomes of diagnosed cases and inform the continuation of the screening program.
Main Methods:
- Retrospective analysis of data from the Brussels neonatal screening program.
- Screening of 118,366 newborns for major haemoglobinopathies.
Main Results:
- 64 cases of sickle cell syndrome, 6 of beta-thalassaemia major, 4 of haemoglobin C disease, and 3 of haemoglobin H disease were identified.
- Outcomes for sickle cell syndrome and beta-thalassaemia major cases were documented, including mortality and treatment interventions like stem cell transplantation.
Conclusions:
- The incidence data supports the continued necessity of the universal neonatal screening program for haemoglobinopathies in Brussels.
- The program plays a crucial role in early detection and management of these genetic blood disorders.
Abstract:
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.
