Exams and Tests

A physical exam and complete medical history are usually the first steps in diagnosing thalassemia. Your medical history includes:

• Your symptoms.
• Your ethnic background.
• The general health of close family members.
• Any other health conditions you may have.
• Any blood tests that you have had.

Results of tests reveal important information, such as the type of thalassemia. Tests that help confirm a diagnosis of thalassemia include:

• Complete blood count (CBC) and blood smear.
  • Blood cells are checked for their shape, color, number, and size. These features help your doctor know whether you have thalassemia and, if so, what type.
  • These tests also tell your doctor if you have mild, moderate, or severe anemia.
• Tests for the genes that often cause thalassemia.
• Blood tests that measure the amount of iron in the blood (iron level tests and a ferritin test).
• A blood test that measures the amounts of different types of hemoglobin (hemoglobin electrophoresis). The results help determine the type of thalassemia you have.
• A complete blood count (CBC) on other members of your family (parents and siblings), to determine whether they have thalassemia.

Doctors often diagnose the most severe form of thalassemia (beta thalassemia major, or Cooley's anemia) within the first year of a child's life.