Beta-Thalassemia Carrier Screening

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Beta-Thalassemia Carrier Screening

What Is Beta-Thalassemia?

Beta-thalassemia is an inherited blood disorder that causes anemia, which is a shortage of red blood cells. Beta-thalassemia causes lower than usual amounts of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen to all parts of the body.

There are two main types of beta-thalassemia:

  • Beta-thalassemia major, also called Cooley's anemia, is the most serious type. It causes life-threatening anemia that leads to serious growth problems, unusually shaped bones, and larger than average liver, spleen, and heart. Beta-thalassemia major is usually diagnosed before age 2. Regular blood transfusions to replace red blood cells help people live into adulthood.
  • Beta-thalassemia intermedia causes milder anemia and symptoms than beta-thalassemia major. It is usually diagnosed after age 2 and rarely requires regular blood transfusions.

Beta-thalassemia is common worldwide. In the United States, it is especially common in people whose ancestors come from Italy, Greece, the Middle East, North Africa, and some parts of Asia.

Next: Genetics of Beta-Thalassemia