Initial presentation of unscreened children with sickle cell disease: the Toronto experience.

BACKGROUND: The morbidity and mortality related to sickle cell disease (SCD) has decreased since the introduction of newborn screening in the United States. Given the multicultural nature of the Canadian population and the growing African Canadian population, it is concerning that there is no national neonatal screening program for SCD in Canada. The objective of this study was to evaluate the most common manner in which SCD is diagnosed in children when neonatal screening is not available routinely.

PROCEDURE: The study design was a retrospective chart review. All children aged from birth to 18 years with SCD and an admission to the Hospital for Sick Children in Toronto, Canada, between 1978 and 2004 were eligible for inclusion.

RESULTS: Fifty-two percent of the children with SCD were diagnosed through some form of screening while 48% were diagnosed with symptoms suggestive of their disease. The median age at time of diagnosis was 0.75 years in the "screened" group, and 2 years in the "symptom" group (P < 0.05). The most common symptomatic presentation was with a vaso-occlusive crisis. Fifteen percent presented with more severe symptoms including acute chest syndrome (5.5%), acute splenic sequestration (5%), sepsis (3.3%), aplastic crisis (1%), priapism (0.5%), meningitis (0.5%), stroke (0.5%), and death (1%).

CONCLUSIONS: Fifteen percent of children with undiagnosed SCD presented initially with severe complications of the disease. The morbidity and mortality related to undiagnosed SCD underscores the need for a national neonatal screening program in Canada.