The High Authority for Health (HAS) recommends that screening for sickle cell disease, a hereditary blood disease whose consequences can be serious, be extended to all newborns.
- Sickle cell disease is the most common genetic disease in France according to Inserm.
- It is very widespread in the world since it concerns approximately 300,000 births per year, indicates Inserm.
Newborns whose parents have origins at risk of sickle cell disease – mainly populations from sub-Saharan Africa, the West Indies and North Africa – will no longer be the only ones concerned by screening. The High Authority for Health (HAS) has now extended it to everyone.
Screening for sickle cell disease for all newborns is necessary
The reasons put forward by the HAS are numerous:It is the only disease screened at birth whose incidence is steadily increasing: 557 cases were screened in 2020 compared to 412 in 2010”, say the experts in the press release.
In addition, this generalization will put an end to inequality in access to screening. Currently more than three out of four children benefit from it in Ile-de-France, against barely one in two nationally in 2020, while no region in France is free of cases, according to the HAS.
Several studiespublished since 2014, have also shown a risk of error in targeting by healthcare teams, which is not without consequences for the health of newborns.
Sickle cell disease can be deadly
Indeed, the manifestations of the disease can appear from the age of 3 months and induce very serious repercussions. Sickle cell disease is, for example, the first cause of cerebrovascular accident in children, indicates the HAS.
Sickle cell disease is a genetic disease that affects the hemoglobin of red blood cells according to theInserm. It is manifested in particular by anemia, painful crises and an increased risk of infections including pneumococcus is the first causative agent, and which can be fatal.
In the absence of early diagnosis, it is believed that 50 to 80% of children die before the age of 5 in countries with a high prevalence of the disease. The HAS recalls that the screening test used is very efficient: no false positives have been reported in 20 years.