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Newborn screening for haemoglobinopathies: the Brussels experience
B Gulbis1, L Tshilolo, F Cotton
1Department of Clinical Chemistry, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Journal of Medical Screening
|May 13, 1999
Summary
Neonatal screening for haemoglobinopathies in Brussels identified sickle cell disease in 0.048% of newborns. The study supports universal screening to detect these genetic blood disorders.
Area of Science:
- Medical Genetics
- Public Health
- Hematology
Background:
- Haemoglobinopathies are inherited blood disorders.
- Regions with high prevalence necessitate targeted screening.
- Neonatal screening aids early detection and management.
Purpose of the Study:
- To ascertain the prevalence of haemoglobinopathies in Brussels.
- To evaluate the necessity of neonatal screening for these conditions.
Main Methods:
- Systematic screening of 23,136 cord blood samples.
- Utilized isoelectric focusing for haemoglobinopathy detection.
- Data collected from eight Brussels hospital nurseries between 1994 and 1998.
Main Results:
- Identified sickle cell disease in 11 neonates (0.048%) and beta thalassaemia major in one.
- Detected 1.5% carriers of haemoglobin variants and 2.9% with Hb Bart's.
- 45% of newborns originated from regions identified as high-risk for haemoglobinopathies.
Conclusions:
- The study confirms the significant prevalence of haemoglobinopathies in Brussels.
- Results underscore the value and necessity of universal neonatal screening programs.
- Early identification facilitates timely intervention and genetic counseling.