Sickle cell disease is an inherited blood disorder that reduces the body’s ability to carry oxygen to different organs and tissues.
This condition causes red blood cells to become sickle-shaped instead of round like healthy red blood cells. Symptoms include anemia, pain, fatigue, and an increased risk for infection. Symptoms typically begin in childhood and can vary from mild to severe.
This condition is caused by pathogenic (disease-causing) variants in the HBB gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms.
Other names for this condition include HBB-related hemoglobinopathies, sickle cell anemia, and hemoglobin SS or SC disease.