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Beta Thalassemia

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)

Cooley’s Anemia Foundation

Thalassemia International Federation

Revised June 2022

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The Norton & Elaine Sarnoff Center for Jewish Genetics is a supporting foundation of the Jewish United Fund, and is supported in part by the Michael Reese Health Trust.

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