Associations of patients, doctors and researchers have been asking for it for more than ten years. Neonatal screening for sickle cell anemia is finally a reality. From 1Ahem In November, all newborns will benefit from the national newborn screening program, which systematically screens for twelve diseases, including cystic fibrosis, congenital hypothyroidism and leucinosis (also called “maple syrup urine disease”). . This screening, also called the “Guthrie test,” is performed by taking drops of blood on a blotting paper after a small prick in the heel or hand of the newborn.
Sickle cell anemia is an anemia of genetic origin that especially affects populations originating in sub-Saharan Africa, the West Indies, North America, India, the Mediterranean region and the Middle East. Hence, the screening is initially aimed at these audiences. Since 1984 it has been generalized to overseas departments and regions. In mainland France, since 1995, ethnic attacks have targeted Antillean, African and Mediterranean populations, and were regularly reported by patient associations to be stigmatizing.
Finally, some maternity hospitals did it, others did not. In Ile-de-France, where the prevalence is particularly high because risk populations are concentrated there, more than 75% of newborns are examined. In November 2022, the High Health Authority recommended generalizing this screening to all newborns. On August 3, a decree was published.
Sickle cell anemia, an inherited genetic blood disease that affects red blood cells, manifests itself a few months after birth, particularly through significant anemia, episodes of severe bone pain related to occlusion of blood vessels, and a high risk of infections (pneumonia, meningitis…). . It is the leading cause of stroke in children and young adults.
“Genetic advice”
Above all, among all the diseases that are systematically detected in newborns, sickle cell anemia is the most common. The number of patients in France is estimated at 30,000. And it continues to progress. Between 2012 and 2022, while the frequency of other detected diseases remained stable, the number of babies born with sickle cell anemia increased from 382 to 684, or one case for every 1,061 births, five times more than cystic fibrosis.
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