Saturday, June 19 was marked as World Sickle Cell Day. On this occasion, 45 health professionals, national and local elected officials and patient defense associations are publishing a forum to better recognize this disease which, in France, affects more than 20,000 people.
- Sickle cell disease is a genetic disease that affects red blood cells and can manifest as anemia, chronic fatigue and severe joint pain.
- Although it is the first genetic disease in France, it remains little known to the general public and therefore misdiagnosed, despite the existence of a neonatal screening test.
- In a column published in the “JDD”, 5 health professionals, national and local elected officials and patient defense associations call for sickle cell disease to be made a major national cause for 2022.
Sickle cell disease is the first genetic disease in France corn “nevertheless appears to be a great forgotten disease, a disease unknown to the general public”underline the authors of this column published on Saturday June 19 in the Sunday newspaper.
Sickle cell disease is a genetic disease that affects red blood cells. It can be manifested by anemia, chronic fatigue, as well as very violent flare-ups of pain in the joints and an increased risk of infections.
In short, this is what is called an “invisible handicap”: no external physical symptom, but real suffering and very deleterious effects on the daily lives of patients. The authors of the forum explain in particular that nearly 30% of young patients repeated a year or were forced to stop their studies because of repeated hospitalizations caused by the pain of the disease, while 29% of adult patients explained that they had missed a job or promotion opportunity for the same reasons.
Make sickle cell disease a great national cause for 2022
If this disease is present on other continents and more recognized in countries such as India or sub-Saharan Africa, it remains largely unknown in France. However, it cannot be considered rare: “Between 2009 and 2019, the number of newborns tested positive for sickle cell disease increased by 45%, from 314 cases per year to 482. Nearly 80% of them were born in mainland France, and for a large part of them in Ile-de-France, which is today the region with the highest concentration of patients. In 2019, one out of 590 newborns was detected there with major sickle cell syndrome”recalls the tribune.
“Faced with this situation, we, health professionals, patient associations, national and local elected officials and researchers, are calling for sickle cell disease to be made the great national cause of 2022.. This decision would send a strong signal to those who suffer from this disease, to their families and to the healthcare professionals who fight alongside them tirelessly.”believe the signatories.
The latter also deplore the absence of a national register of the disease and neonatal screening “still too targeted” in a city. As for the treatments available, none are accessible to all patients. However, curative methods have been studied in recent years, in particular bone marrow transplantation and genetical therapy.
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