Sikkelcelziekte in de hielprikscreening. I

OBJECTIVE: Evaluation of the results of the first year following the expansion of the Dutch national heel prick screening programme to include sickle cell disease (SCD). DESIGN: Prospective national registration of children with suspected SCD or another type of severe haemoglobinopathy. METHODS: The bloodspots were analysed using a haemoglobin separation method based on high performance liquid chromatography (HPLC). Children with an abnormal heel prick result were supposed to be referred to a paediatric haematologist in 1 of the 8 university hospitals. Confirmation of the diagnosis was made by means of a second HPLC test, a DNA test and an investigation for haemoglobinopathy in the parents. The final diagnosis was compared with the probable diagnosis made during screening. RESULTS: In the first year, 64 children had an abnormal heel prick screening result which indicated a haemoglobinopathy (prevalence: 0.035%). The probable diagnosis was SCD in 41 children, alpha-thalassaemia in 18 children, beta-thalassaemia in 4 children and another form of haemoglobinopathy (HbEE) in 1 child. The probable diagnosis was confirmed in all of the children. CONCLUSION: The first year of the Dutch neonatal screening programme for SCD was successful, considering that the number of children in whom a diagnosis was made was in line with that expected. The positive predictive value of the heel prick result was thus 100%. It is too early to comment on possible false negative test results