Patient associations, doctors and researchers have been calling for it for more than ten years. Neonatal screening for sickle cell disease is finally a reality. From 1is November, all newborns will benefit from it as part of the national neonatal screening program, which systematically screened for twelve diseases, including cystic fibrosis, congenital hypothyroidism and leucinosis (also called “syrup-smelling urine disease”). maple”). This screening, also called the “Guthrie test”, is carried out by taking drops of blood on a blotter, after a small prick on the newborn's heel or hand.
Sickle cell anemia is an anemia of genetic origin which particularly affects populations originating from sub-Saharan Africa, the West Indies, North America, India, the Mediterranean region and the Middle East. Hence screening initially targeted at these audiences. Since 1984, it has been generalized to overseas departments and regions. In mainland France, since 1995, ethnic targeting targeted West Indian, African and Mediterranean populations, and was regularly denounced by patient associations as being stigmatizing.
Finally, some maternity wards did it, others did not. In Ile-de-France, where the prevalence is particularly high, because the populations at risk are concentrated there, more than 75% of newborns are screened. In November 2022, the High Authority for Health recommended generalizing this screening to all newborns. A decree was published on August 3.
Also read (2022) | Article reserved for our subscribers Sickle cell anemia, the most common genetic disease among those detected at birth, will soon be screened in all newborns
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A hereditary genetic blood disease affecting red blood cells, sickle cell disease manifests itself a few months after birth, notably through significant anemia, episodes of intense bone pain linked to blood vessel occlusion and a high risk of infections (pneumonia, meningitis). …). It is the leading cause of stroke in children and young adults.
“Genetic counseling”
Above all, among all the diseases systematically screened for in newborns, sickle cell disease is the most common. The number of sick people in France is estimated at 30,000. And it continues to progress. Between 2012 and 2022, while the frequency of other diseases detected was stable, the number of babies born with major sickle cell syndrome increased from 382 to 684, or one case in 1,061 births – this is five times more than cystic fibrosis. .
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