Beta thalassemia is an inherited blood disorder that reduces the body’s ability to carry oxygen to different organs and tissues by affecting hemoglobin, a protein in red blood cells.
Symptoms include poor growth, pain, fatigue, anemia, enlarged liver and spleen, jaundice, and abnormal bone development.
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 and beta thalassemia major.
Resources:
National Organization for Rare Disorders (NORD)
Thalassemia International Federation
Revised June 2022
