Sickle cell anemia: General screening from the High Office of Health gives the green light

Breakthrough in the field. On Tuesday, the Higher Directorate of Health recommended that all French newborns be screened for sickle cell anemia, a genetic disease with potentially serious consequences. This opinion was issued in connection with the measures taken by the government in this direction.

New data, in particular epidemiological data, have changed the assessment of HAS, she explains in a press release. During her previous evaluation in 2014, she recommended continued targeted screening.

This screening applies to newborn parents from regions with a higher genetic risk (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).

So far, targeted screening has been patchy by region: “More than three out of four children have it in Ile de France, compared to barely one in two in the country in 2020, while no region is free from disease cases. ‘ she adds. In addition, according to health authorities, the “risk of mistargeting” on the part of caregivers has been shown by studies and expert reports.

Start treatment to relieve symptoms

Screening at birth allows immediate treatment to relieve symptoms and avoid complications. “Unanimously in favor of expanding screening,” the associations, professionals, and institutions consulted by HAS “did not question the ability of the health care system to adapt to the increased flow of tests.” They also “emphasized that the expansion of screening removes the risk of stigmatization of target 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. It is less common in France, but affects almost 30,000 people according to the government. Manifested, among other things, anemia, painful crises and an increased risk of infections. Its consequences can be serious: for example, it is the main cause of stroke in children.

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

The generalization of screening for sickle cell anemia is actually already included in the Social Security Funding Bill by a government amendment added after a decision after 49.3 debates on the text in the National Assembly. The measure will be tested for three years and then could be extended indefinitely if it seems convincing.