For ten years, calls from associations of patients, doctors and researchers have multiplied in favor of systematic neonatal screening for sickle cell disease. They have finally been heard. In an opinion issued Tuesday, November 15, the High Authority for Health (HAS) recommends generalizing it to all newborns in the same way as five other diseases including, in particular, cystic fibrosis or congenital hypothyroidism.
This inherited blood disorder affects hemoglobin causing deformation of red blood cells which lose their rounded shape and take on the appearance of a scythe (hence the other name of this condition: sickle cell anemia) and resulting in an occlusion of the young vessels. The disease, which is transmitted by both parents carrying the gene but not sick, manifests itself, among other things, by chronic anemia requiring blood transfusions, painful bone crises evoking a fracture. Another impairment: an increased risk of infections. “Sickle cell disease is the leading cause of stroke in children and young adults”notes the HAS in its opinion.
Virtually unknown to the general public, sickle cell disease is nevertheless the most common genetic disease detected in newborns and the only one that continues to increase due to the mixing of the population. There are between 20,000 and 30,000 people with sickle cell disease in France. But because it is considered to be a condition that primarily affects people from sub-Saharan Africa, the West Indies, North America, India, the Mediterranean region or even the Middle East, France decided to restrict newborn screening since 1984 to overseas departments and regions. Since 1995, there has been ethnic targeting (Caribbean, African and Mediterranean populations), denounced by patients and doctors as a form of discrimination.
An increasing incidence
Despite regular calls from the latter, the HAS had concluded in 2014 that there was no data justifying the generalization of screening to all newborns and recommended the continuation of targeted screening. “Today, we have a lot of hindsight on the disease and new epidemiological data, which is what led us to change our opinion”, explains Andréa Lasserre, from the public health evaluation and vaccine evaluation department at HAS. Starting with the incidence rate. According to the National Neonatal Screening Coordination Center, 557 children were born in 2020 with major sickle cell syndrome (compared to 412 in 2010), an incidence of 1 in 1,323 births (compared to 1 in 2,071) – and 1 in 610 in population screened. By way of comparison, over the same year, 122 babies were affected by cystic fibrosis, an incidence of 1 in 6,064.
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