Sickle Cell Disease

Sickle cell disease (SCD) is an inherited genetic blood disorder caused by a mutation in the HBB gene, which produces abnormal hemoglobin known as hemoglobin S (HbS). Under low oxygen conditions, red blood cells become rigid, sticky, and crescent or sickle-shaped instead of their normal round shape. These abnormal cells can block small blood vessels, reducing blood flow and oxygen delivery to tissues, leading to pain and organ damage.

Common symptoms include chronic anemia, severe pain episodes (vaso-occlusive crises), fatigue, swelling of the hands and feet, frequent infections, delayed growth in children, jaundice, and vision problems. Repeated blockage of blood vessels may damage the heart, lungs, kidneys, spleen, and brain, increasing the risk of serious complications such as stroke and acute chest syndrome.

Diagnosis is usually made through newborn screening, hemoglobin electrophoresis, genetic testing, and blood tests. Early detection allows prompt medical care and prevention of complications.

Management may include hydroxyurea therapy, pain control, blood transfusions, antibiotics, vaccinations, and supportive care. In selected patients, hematopoietic stem cell transplantation may offer a potential cure, while emerging gene therapies are providing new treatment possibilities. Regular follow-up with a hematologist, healthy lifestyle habits, and early intervention significantly improve quality of life and long-term outcomes for individuals with sickle cell disease.