Sickle Cell Disease

Sickle Cell Disease (SCD) is a genetic blood disorder caused by changes in the HBB gene, which affects the production of hemoglobin. Abnormal hemoglobin, known as hemoglobin S, can make red blood cells rigid and crescent-shaped, particularly when oxygen levels are low. These sickle-shaped cells can break down prematurely, leading to chronic anemia, while their reduced flexibility may block small blood vessels and restrict oxygen delivery to tissues.

Common symptoms include episodes of severe pain, fatigue, swelling of the hands and feet, frequent infections, and delayed growth in children. Some individuals may also develop complications involving the lungs, kidneys, eyes, bones, or brain. The severity and frequency of symptoms vary between individuals and depend on the specific genetic form of the disease.
Diagnosis usually involves blood tests and specialized hemoglobin analysis.

Treatment focuses on preventing complications, reducing pain, improving blood health, and maintaining overall well-being. Depending on the individual's needs, care may include medicines such as hydroxyurea, blood transfusions, vaccinations, and supportive therapies. For selected patients, hematopoietic stem cell transplantation can potentially provide a cure. Advances in gene-based therapies are also expanding treatment possibilities for eligible patients. Regular medical monitoring is important for managing SCD and supporting long-term health.