Résumé
Sickle cell disease, also known as sickle cell anaemia, is a genetic disease of autosomal recessive transmission with approximately 300,000 births per year worldwide. It is caused by a mutation in a gene coding for beta-globin located on chromosome 11. Patients have quite variable symptoms, depending not only on age but also on the severity of the disease. Sickle cell disease has made considerable progress since its discovery through a better understanding of the pathophysiology of the disease, the introduction of neonatal screening allowing early treatment and the setting up of effective preventive measures (antibiotic prophylaxis, vaccination). A few years ago, the treatment of sickle cell disease consisted on one hand of pain management with analgesics and on the other hand of blood transfusions to reduce the number of attacks. However, in the last two decades, the use of hydroxyl-urea, which increases the level of foetal haemoglobin, has revolutionised the management of sickle cell patients. The acute pain crisis is a frequent event that summarises the life of sickle cell patients. The recent discovery of new therapeutic molecules (voxelotor, crizanlizumab) that reduce drastically the number of attacks is therefore a source of hope for these patients with a severe form of major sickle cell syndrome. To date, there is no curative treatment for sickle cell disease apart from bone marrow transplantation, which is very expensive and has its own constraints. Gene therapy is the only alternative to transplantation that is currently being studied.