Sarlósejtbetegség

Sarlósejtbetegség, also known as sickle cell disease (SCD), is a group of inherited red blood cell disorders. It affects hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In people with SCD, the hemoglobin is abnormal, causing the red blood cells to become rigid and sickle-shaped, resembling a farmer's sickle.

These sickle-shaped cells can block blood flow in small blood vessels, leading to pain, organ damage, and other serious complications. The sickling and deoxygenation of red blood cells is a key characteristic. Common symptoms include severe pain episodes, known as sickle cell crises, chronic anemia, swelling in the hands and feet, and increased susceptibility to infections.

SCD is a genetic disorder inherited from both parents. It is more prevalent in people of African, Mediterranean, Middle Eastern, and Indian descent. Diagnosis is typically made through newborn screening or blood tests.

While there is currently no universal cure for SCD, treatments focus on managing symptoms, preventing complications, and improving quality of life. These can include pain management medications, blood transfusions, hydroxyurea to reduce the frequency of painful crises, and in some cases, bone marrow or stem cell transplantation. Ongoing research is exploring new therapeutic approaches to address this lifelong condition.