sichelzellanämie

Sichelzellanämie, also known as sickle cell disease, is a genetic blood disorder that affects hemoglobin, the protein in red blood cells responsible for carrying oxygen. Individuals with sichelzellanämie inherit an abnormal form of hemoglobin called hemoglobin S. When oxygen levels are low, these red blood cells can deform into a sickle or crescent shape. These sickle-shaped cells are rigid and sticky, unlike normal disc-shaped red blood cells, and can block blood flow in small blood vessels.

This blockage can lead to severe pain episodes, known as sickle cell crises, which can occur in the chest, abdomen, joints, and bones. The sickled cells are also destroyed more rapidly than normal red blood cells, leading to chronic anemia, a shortage of red blood cells. This chronic anemia can cause fatigue, shortness of breath, and delayed growth and development in children. Complications of sichelzellanämie can be severe and include organ damage, stroke, infections, and vision problems.

Sichelzellanämie is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the gene for abnormal hemoglobin, one from each parent, to have the disease. If a person inherits only one copy, they are a carrier of the sickle cell trait and usually do not experience symptoms, though they can pass the gene on to their children. Diagnosis is typically made through newborn screening or blood tests. Treatment aims to manage symptoms, prevent complications, and improve quality of life, and can include medications, blood transfusions, and in some cases, bone marrow transplantation.