Sickle Cell Disease is a genetic blood disorder that affects the shape of red blood cells. Normally, these cells are round and flexible, allowing them to move easily through blood vessels. In sickle cell disease, the cells become stiff and shaped like a crescent or sickle, which can block blood flow and cause pain. This blockage can lead to complications like infections, anemia (low red blood cell count), and damage to organs. People with sickle cell disease may experience episodes of severe pain, known as "sickle cell crises," and require ongoing medical care to manage their symptoms and prevent complications. It is inherited from parents, and while there is no universal cure, treatments can help manage the disease and improve quality of life.

Where does it start?

Sickle cell disease starts in the bone marrow, where blood cells are produced. Specifically, it involves the production of red blood cells, which are normally round and flexible. In sickle cell disease, a genetic mutation affects the hemoglobin—the protein in red blood cells that carries oxygen. This mutation causes the hemoglobin to form into stiff rods, changing the shape of the red blood cells from a round to a crescent or sickle shape. These misshaped cells are less flexible and can get stuck in small blood vessels, leading to blockages that cause pain and other complications. The condition is inherited from parents who carry the sickle cell trait or have the disease themselves.

Symptoms

Sickle cell disease presents a variety of symptoms that can vary in severity and frequency. One of the most common symptoms is pain, often referred to as a "sickle cell crisis," which occurs when sickle-shaped cells block blood flow in small vessels, causing intense pain in the chest, abdomen, joints, or bones. Other symptoms include anemia, leading to fatigue and weakness due to a lower red blood cell count. Individuals may also experience episodes of swelling in the hands and feet, frequent infections due to spleen damage, and delayed growth in children. Jaundice, a yellowing of the skin and eyes, can occur due to the rapid breakdown of sickle cells. Overall, these symptoms can significantly impact daily life and require ongoing medical care and management.

Treatment

Treatment for sickle cell disease focuses on managing symptoms and preventing complications. Pain management is a key aspect, with over-the-counter or prescription medications used to relieve pain during crises. Hydroxyurea is often prescribed to reduce the frequency of pain episodes and the need for blood transfusions by increasing fetal hemoglobin production. Blood transfusions may be necessary for severe anemia or to prevent complications like stroke. To lower the risk of infections, especially in children, antibiotics and vaccinations are commonly recommended. Folic acid supplements support the production of new red blood cells, while lifestyle changes—such as staying hydrated, avoiding extreme temperatures, and managing stress—can help prevent crises. For some patients, a bone marrow or stem cell transplant may offer a potential cure, although it involves significant risks and is not suitable for everyone. Overall, treatment plans are tailored to each individual, often involving a team of healthcare providers.