Sickle cell disease: the world's leading genetic disease
Painful crises, anemia, prevention of complications
Dr. Camille Roux
Hematologist
Abnormal hemoglobin
Sickle cell disease is caused by a mutation in the β-globin gene producing hemoglobin S. Red blood cells take on a sickle shape, obstruct small blood vessels, and are prematurely destroyed. More than 300,000 children are born with the disease each year.
Manifestations
Painful vaso-occlusive crises (bone, abdominal), chronic hemolytic anemia, susceptibility to infections (functional asplenia), acute chest syndrome, stroke, kidney and retinal damage.
Treatments
- Hydroxyurea: increases fetal hemoglobin, reduces crises
- Transfusions and exchange programs
- Voxelotor, crizanlizumab: new molecules
- Bone marrow transplant: only widely available curative treatment
- Gene therapy (Casgevy, Lyfgenia): approved in 2023-2024, major prospects
Prevention
Enhanced vaccinations, pediatric antibiotic prophylaxis, hydration, systematic neonatal screening.
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