drépanocytose

Drépanocytose, also known as sickle cell anemia, is a genetic blood disorder that affects hemoglobin, the protein in red blood cells responsible for carrying oxygen. Individuals with drépanocytose inherit two copies of a gene that causes their red blood cells to become sickle or crescent-shaped. These abnormally shaped cells are less flexible and can block blood flow, leading to pain, organ damage, and other serious complications.

The condition is inherited in an autosomal recessive pattern, meaning a person must inherit a mutated gene from both parents to have the disease. If a person inherits only one mutated gene, they are a carrier and typically do not experience symptoms but can pass the gene to their children. Symptoms can vary greatly in severity and may include episodes of severe pain (sickle cell crises), anemia, fatigue, swelling in the hands and feet, and increased susceptibility to infections.

Diagnosis is usually made through newborn screening programs or blood tests. While there is no cure for drépanocytose, treatments focus on managing symptoms and preventing complications. These can include pain medications, blood transfusions, hydroxyurea medication to reduce the frequency of crises, and in some cases, stem cell transplantation. Early diagnosis and consistent medical care are crucial for improving the quality of life for individuals with drépanocytose.