Herkenning van kinderen met sikkelcelziekte in Nederland

Timely recognition of clinical signs and symptoms of sickle cell disease remains of great importance because the neonatal PKU screening program in The Netherlands that was introduced in January 1st 2007 will not reach all children with this disease. Of children that have been diagnosed in the Emma Children's Hospital AMC, Amsterdam, 20% would not have been reached by this new program: immigrant's children born abroad and adopted children. It goes without saying that also in children that have been born in the Netherlands before January 1st 2007 the diagnosis sickle cell disease should be considered in cases of disease-specific clinical symptoms. The initial clinical manifestation of sickle cell disease in children born in the Netherlands is potentially life-threatening in 8% (7/88), e.g. a pneumococcal infection or an acute splenic sequestration. Painful crisis, paleness and jaundice are the most common presenting symptoms. The median age at diagnosis of the group of Amsterdam children was 25 months. In view of the potential health benefit it is advised to test children from populations at risk, that are under the medical attention of a hospital for any reason, for the presence of sickle cell disease. This applies especially to children with a pneumococcal infection