[Newborn screening for sickle cell disease in France].

Med Sci (Paris)

Centre de référence de la drépanocytose, Hôpital universitaire Robert Debré, 48 boulevard Sérurier, AP-HP, 75019 Paris, France - Inserm UMR 1123-Épidémiologie clinique, évaluation économique appliquées aux populations vulnérables (ECEVE), 10 avenue de Verdun, 75010 Paris, France.

Published: May 2021

Newborn screening (NBS) for sickle cell disease (SCD) in France has allowed the identification of 9,260 children with SCD since 1989, including 583 in 2019. In mainland France, however, SCD screening is targeted to newborns identified at risk of SCD, i.e born from parents originating from countries with a high SCD prevalence. This screening program, combined to prophylactic measures and a well-organized social and health network in France, has demonstrated considerable efficacy in reducing childhood mortality as well as severe infectious, anemic and neurovascular complications in childhood. SCD NBS has additionally allowed the identification of 180,687 heterozygous (AS) children since 1989. The increasing incidence of SCD (1/1,303 new-borns identified in 2019 versus 1/2,089 in 2009) now pleads for universal NBS and strong advocacy regarding SCD, the most frequent disease identified by NBS in France, and a major public health issue.

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Source
http://dx.doi.org/10.1051/medsci/2021056DOI Listing

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