At present, the Neonatal screening for sickle cell disease only concerns babies whose parents are at risk. And if it were now extended to all newborns ? This is what the High Authority for Health (HAS) suggests in a new recommendation.
Sickle cell disease: a genetic disease with serious consequences
A hereditary genetic blood disease, sickle cell disease is characterized by an anomaly of hemoglobin, the main protein of red blood cells. Deformed and weakened, the red blood cells can no longer correctly carry out their oxygen transport function, which causes a lack of oxygenation of the tissues.
To know ! Hemoglobin transports oxygen from the lungs to the tissues and participates in the elimination of carbon dioxide.
Then follow consequences that can be serious such as anemia, painful vaso-occlusive crises and an increased risk of infections. The manifestations of the disease can appear from the age of 3 months, and in the absence of early treatment, the infant mortality rate in children with sickle cell disease is very high.
Therefore, early detection is essential to start as soon as possible appropriate care.. But at present, neonatal screening for sickle cell disease only concerns babies whose parents are at risk.
To know ! Many populations have been identified as being at risk for sickle cell disease. These are people from or living in territories such as the West Indies, Guyana, Reunion, Mayotte, sub-Saharan African countries, Cape Verde, etc.
New epidemiological data
A new recommendation from the High Authority for Health (HAS) should nevertheless change the situation. Seized by the General Directorate of Health, the authority has just updated its opinion on neonatal screening for sickle cell disease. The HAS recommends that neonatal screening be extended to all newborns from now on. Its last recommendations on the subject dated back to 2014. HAS is therefore now changing its position on the basis of new epidemiological data available:
- Regular increase in the incidence of sickle cell disease (557 cases detected in 2020 compared to 412 in 2010).
- Heterogeneous deployment of screening from one region to another.
- Difficulties in the application of targeting rules creating the risk that some newborns with sickle cell disease will not be screened (with a high loss of chance for these children as well as serious consequences on their health).
And the authority to underline the advantages of such screening. Above all, it is safe and effective thanks to the high performance of the test used. With no false positives reported in 20 years, this test is performed on the same medium as other screening tests performed at birth. In addition, early detection of the disease can make it possible to put in place preventive measures in order to avoid the occurrence of infections (such as anti-pneumococcal vaccination for example).
To know ! In patients under 5 years of age with sickle cell disease, infections are the leading cause of death.
Towards universal neonatal screening for sickle cell disease?
All the professional, associative and institutional players involved in the fight once morest sickle cell disease share the new opinion of the HAS regarding the extension of screening to all newborns. They are also delighted that the generalization of this screening will put an end to the risk of stigmatization of the populations currently targeted by current screening.
We bet that the General Directorate of Health will follow the recommendation of the HAS and draw inspiration from all the other European countries already practicing universal screening for sickle cell disease!
Déborah L., Doctor of Pharmacy
Sources
– Sickle cell disease: The most common genetic disease in France. inserm.fr. Accessed November 21, 2022.
