Neonatal haemoglobinopathy screening in Belgium

Area of Science:

• Medical Genetics
• Neonatal Care
• Public Health Screening

Background:

• Established neonatal haemoglobinopathy screening programs in Brussels and Liège, adapted to local needs.
• Over a decade of implementation in Brussels and five years in Liège.

Purpose of the Study:

• To evaluate the effectiveness of universal neonatal screening for haemoglobinopathies in Belgium.
• To report the incidence of various haemoglobinopathies detected through the screening program.

Main Methods:

• Universal neonatal screening using liquid cord blood and isoelectric focusing.
• Confirmatory testing for all abnormal samples, reporting major and minor haemoglobinopathies.
• Referral of affected children to specialist centers with a central database for results.

Main Results:

• Screened 191,783 newborns, identifying 123 cases of sickle cell disease (1:1559).
• Detected seven cases of beta thalassaemia major (1:27,398) and seven of haemoglobin C disease (1:27,398).
• Identified five cases of haemoglobin H disease (1:38,357), with all major haemoglobinopathies confirmed and follow-up initiated.

Conclusions:

• The screening program proved effective, preventing major haemoglobinopathy identification post-neonatal period.
• Affected infants received specialized medical care from birth.
• The program, including minor haemoglobinopathy reporting, serves as a successful health education tool in Belgium.