MALADIE In France, sickle cell disease affects nearly 30,000 people, according to government figures
Screening for sickle cell disease concerns newborns whose parents come from areas where the genetic risk is higher . — M.LIBERT/20 MINUTES
The High Authority of health recommended Tuesday to generalize to all French newborns screening for sickle cell disease, a genetic disease with potentially serious effects, an opinion issued in the wake of measures taken by the government in this direction. /p>
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New data, in particular epidemiological data, have modified the the appreciation of the HAS, she explains in a press release. During her previous assessment, in 2014, she recommended to continue targeted screening.
This screening concerns newborns whose parents come from areas where the genetic risk is greater (Antilles, Guyana, Reunion, Mayotte, sub-Saharan Africa, Cape Verde, Brazil, India, Indian Ocean, Madagascar, Mauritius, Comoros, Algeria, Tunisia, Morocco, Southern Italy, Sicily, Greece, Turkey, Lebanon, Syria, Saudi Arabia, Yemen, Oman).
One of the most common genetic diseases in the world
Sickle cell disease is an inherited blood disorder that affects red blood cells. It’s one of the most common genetic diseases in the world, especially in Africa. In France, it is rarer but affects nearly 30,000 people, according to government figures.
It is manifested by, among other things, anemia, painful attacks and an increased risk of infections. Its repercussions can be serious: it’s, for example, the leading cause of stroke in children.
“” is the only disease detected at birth, the incidence of which is steadily increasing: 557 cases have been reported; screened in 2020 compared to 412 in 2010” in France, observes the HAS.
Heterogeneous screening according to the regions
Until then, targeted screening is heterogeneous according to the regions: “More than three out of four children benefit from it in Ile-de-France, against barely one out of two nationwide in 2020, while no region is free of cases,” she adds. In addition, “a risk of error in targeting” by caregivers was shown by studies and reported; by professionals, according to the authority. sanitary. Screening at birth makes it possible to immediately initiate treatments likely to alleviate symptoms and avoid complications.
“Unanimous on the interest of broadening screening,” the associations, professionals and institutions consulted by HAS “did not question the capacity adaptation of the health system to increasing the flow of tests” They also “emphasized that the generalization of screening would remedy the risk of stigmatization of the populations currently targeted”.
The generalization of screening for sickle cell disease is already, in fact, integrated into the Security financing bill; social by a government amendment added after the end, via 49.3, of the debates on the text to be the National Assembly. This measure would be tested for three years, then could be extended indefinitely if it appeared convincing.