Sickle Cell Screening | Seronet

The High Authority for Health (HAS) recommends the generalization of screening for sickle cell disease at birth. Sickle cell disease is an inherited blood disorder with potentially serious consequences. In France, its screening is currently carried out in a targeted manner, in newborns whose parents have origins at risk. Seized by the General Directorate of Health, the HAS updated (November 15) its opinion on neonatal screening for sickle cell disease. On the basis of the new data available, in particular epidemiological, it now recommends that it be extended to all newborns. Among the diseases screened at birth, sickle cell disease is the most common genetic disease in France. Its incidence has been increasing steadily since 2010 to reach 1 newborn in 1,323 in 2020. The data that today lead the HAS to propose the generalization of screening for sickle cell disease are multiple. Thus, it is the only disease screened at birth whose incidence is increasing regularly: 557 cases were screened in 2020 compared to 412 in 2010. In addition, screening is deployed in a heterogeneous manner from one region to another: more than three out of four children benefit from it in Île-de-France, compared to barely one out of two nationally in 2020, while no region in France is free of cases. In addition, there are risks that some newborns with sickle cell disease will not be screened, due to difficulties in applying targeting rules. In addition, the manifestations of the disease can appear from the age of three months and induce very serious repercussions. Sickle cell disease is, for example, the leading cause of stroke in children. The HAS recalls that the screening test used is very effective, in particular, no false positives have been reported in 20 years. All of these reasons led the HAS to recommend stopping targeting in favor of neonatal screening for sickle cell disease extended to all newborns.