Detección neonatal de la anemia de células falciformes

BACKGROUND: Sickle cell disease is an inherited disorder that occurs throughout the world with its highest incidence in areas of Africa where malaria is endemic. It affects up to 1 in 60 infants born in some areas of Africa. There are a number of potentially serious complications associated with the condition, and it is suggested that early treatment (before symptoms develop) can improve both morbidity and mortality. Screening for the condition in the neonatal period would enable early diagnosis and therefore early treatment. OBJECTIVES: To assess whether there is evidence that neonatal screening for sickle cell disease rather than symptomatic diagnosis reduces adverse short- and long-term outcomes for those in whom the disease is detected, without adverse outcomes in the population screened. SEARCH STRATEGY: We searched the Haemoglobinopathies Trials Register of the Cochrane Cystic Fibrosis and Genetic Disorders Group. Contact was made with experts in the field for any work as yet unpublished. Reference lists of published studies were also searched. Date of the most recent search of the Group's Trials Register: 09 April 2010. SELECTION CRITERIA: Any randomised or quasi-randomised trial, published or unpublished comparing diagnosis by screening to clinical diagnosis would have been considered eligible for inclusion. DATA COLLECTION AND ANALYSIS: No trials of neonatal screening for sickle cell disease were found. MAIN RESULTS: No trials of neonatal screening for sickle cell disease were found. AUTHORS' CONCLUSIONS: There is a lack of evidence from trials of neonatal screening for sickle cell disease. There is evidence of benefit from early treatment which is made possible by screening and there are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate. Healthcare providers must therefore assess whether the information provided by these documents is relevant to their practice and situation when making decisions regarding neonatal screening for sickle cell disease. Systematic reviews of early treatments or interventions, including penicillin prophylaxis, pneumococcal vaccine and parental education should be considered. There are no trials included in the review and we have not identified any relevant trials up to July 2008. We therefore do not plan to update this review until new trials are published.