Sickle cell disease

Research Pre-clinical phase Phase I or I/II  

Sickle cell disease (SCD) is a genetic disease that affects hemoglobin, a protein contained in red blood cells that transports oxygen throughout the body. In patients with SCD, a defect in the structure of hemoglobin results in a deformation of the red blood cells, which take on a sickle-like shape.

The disease, which manifests as anemia (characterized by fatigue, dizziness, shortness of breath …), occlusion of blood vessels, stroke, predisposition to infections and severe pain, is caused by poor blood circulation associated with the sickle-like shape of the red blood cells, which block the small blood vessels.

It is the most widespread rare genetic disease in the world, affecting millions of people. The disease is widespread in Africa, where one newborn out of 65 suffers from SCD, but also in the capitals of Western Europe, where one person in 2,000 is born with the disease. In the Caribbean, 0.4% of newborns have sickle-cell anemia. In France, the annual number of births of children with SCD is estimated to be 300, making SCD the first genetic disease in the country.

The main treatment used for this disease is blood transfusion. This helps to restore an acceptable amount of normal red blood cells in the body and to eliminate or significantly reduce the symptoms of anemia and the risk of stroke. However, repeated transfusion results in an accumulation of iron in the bodies of patients that, over time, can cause heart, liver and hormonal problems.

Genethon has developed gene therapy for sickle cell disease, which is now in the preclinical stage.