Screening for sickle cell disease will not be extended to all newborns according to the recommendations of the Haute Autorité de la Santé (HAS).
sickle cell disease is a very widespread genetic disease in the world but which particularly affects people with dark skin. This is why the overseas departments are considered to be risk areas. Sickle cell disease affects more than tens of millions of people and affects approximately 10,000 individuals in France. Since 2000, screening for this disease has been compulsory for babies born in the overseas departments and those born in mainland France whose parents come from overseas or other high-risk areas. Each year, 300,000 babies are screened in France through a simple blood test. Patients have an increased risk of thrombosis, profound anemia and pneumococcal or meningococcal infections.
The General Directorate of Health has asked the High Authority for Health (HAS) to assess the interest of making this screening compulsory for all babies born in mainland France.
Sickle cell disease mainly affects people from sub-Saharan Africa, certain regions of the Arabian Peninsula, India and around the Mediterranean. In France, 382 cases were identified in 2012 (72 in the overseas departments, 310 in mainland France) according to the HAS.
The HAS does not recommend the extension of screening for sickle cell disease
The HAS first analyzed the scientific studies concerning this disease, assessed the current situation of neonatal screening (DNN) for sickle cell disease in France, Europe and North America, as well as the most recent epidemiological data. Then it also interviewed medical experts, representatives of patient associations and representatives of the French Association for the Screening and Prevention of Childhood Disabilities (AFDPHE) in charge of managing neonatal screening.
After consultation and reflection, the HAS affirms in a press release that “the effectiveness and efficiency of the extension of this screening to all newborns in metropolitan France have not been scientifically demonstrated. Given that there is also no signal indicating a lack of effectiveness of the current strategy, the HAS does not recommend extending screening for sickle cell disease to all newborns. »