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Sickle cell anemia: green light from the High Health Authority for generalized screening

A breakthrough in the field. The High Authority for Health on Tuesday recommended that all French newborns be screened for sickle cell anemia, a genetic disease with potentially serious effects. This opinion was issued in the wake of the measures taken by the government in this sense.

New data, particularly epidemiological, have changed the assessment of HAS, he explains in a statement. During her previous evaluation, in 2014, she recommended continuing targeted screening.

This screening concerns newborns of parents from areas where the genetic risk is higher (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).

Until now, targeted screening has been heterogeneous depending on the region: “More than three in four children benefit from it in Île-de-France, compared to just one in two nationwide in 2020, while no region is free from cases ”, he adds. In addition, according to the health authority, “a risk of targeting error” by caregivers has been demonstrated by studies and reported by professionals.

Initiate treatments to relieve symptoms

Birth screening allows for immediate treatment to relieve symptoms and avoid complications. “Unanimous on the interest of expanding screening”, the associations, professionals and institutions consulted by the HAS “have not questioned the ability of the health system to adapt to the increase in the flow of tests”. They also “underlined that the generalization of screening remedies the risk of stigmatization of currently targeted populations”.

Sickle cell anemia is an inherited blood disorder that affects red blood cells. It is one of the most common genetic diseases in the world, especially in Africa. In France, it’s rarer but affects nearly 30,000 people, according to government figures. It is manifested, among other things, by anemia, pain crises and an increased risk of infections. Its repercussions can be serious: for example, it is the leading cause of stroke in children.

“It is the only disease detected at birth whose incidence increases steadily: 557 cases were detected in 2020 compared to 412 in 2010” in France, notes the HAS.

The generalization of screening for sickle cell anemia is already, in fact, integrated into the bill on the financing of social security by a government amendment added after the sentence, via 49.3, of the debates on the text in the National Assembly. This measure would be tested for three years, then could be extended indefinitely if it looks convincing.

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