Alpha 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 various levels of anemia, fatigue, jaundice, enlargement of the liver and spleen, excess fluid in the body and tissues, birth defects, and intellectual and physical disability. This condition can range from mild to severe and can be fatal in infancy.
This condition is caused by pathogenic (disease-causing) variants in the HBA1 and HBA2 genes 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 may experience mild anemia. However, most carriers do not experience any symptoms related to the condition. If you are found to be a carrier, a genetic counselor will talk to you in more detail about this risk and what it means.
Resources:
National Organization for Rare Disorders (NORD)
Revised June 2022
