Sichelzellenanämie

Sichelzellenanämie, also known as sickle cell disease or sickle cell anemia, is a genetic blood disorder that affects hemoglobin, the protein in red blood cells responsible for carrying oxygen. It is inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. The mutation causes the red blood cells to become rigid and sickle-shaped, particularly when oxygen levels are low. These sickle-shaped cells can block blood flow in small blood vessels, leading to pain, organ damage, and anemia.

Symptoms vary widely among individuals but commonly include severe pain episodes, known as crises, which can occur in the bones, chest, and abdomen. Other complications can include anemia, fatigue, jaundice, increased susceptibility to infections, stroke, and organ damage affecting the spleen, kidneys, lungs, and heart. Diagnosis is typically made through newborn screening or by blood tests that identify the abnormal hemoglobin.

There is no universally curative treatment for sickle cell anemia, but management focuses on preventing and treating complications. This includes pain management, blood transfusions, hydroxyurea medication to reduce the frequency of crises, and prophylactic antibiotics to prevent infections. Bone marrow or stem cell transplantation can be curative for some individuals, but it is a complex procedure with significant risks. Research is ongoing to develop new therapies and improve the quality of life for those with sickle cell anemia.