Thalassemia Diagnosis

The ways that a healthcare provider diagnoses thalassemia depends on the type of thalassemia you have. If you have minor or no symptoms, your provider may suspect thalassemia based on the results of a routine blood test. Other types of thalassemia cause more severe symptoms that can be found earlier in life, usually before a child is 2 years old.

To determine whether you or your child have thalassemia, your provider may ask about your risk factors, including your family’s and your medical history. Since thalassemia is inherited through genes, your provider may also ask whether someone in your family has thalassemia.

Your provider might also order blood or genetic tests.

Blood and genetic tests

Your provider may order the following tests to determine whether you or your child have thalassemia:

  • Complete blood count (CBC) measures the amount of hemoglobin and different types of blood cells (such as red blood cells) in your blood. People who have thalassemia have fewer healthy red blood cells and less hemoglobin than normal. Depending on the type of thalassemia, your red blood cells may look smaller and show signs of disease under a microscope.
  • Special hemoglobin tests measure the types of hemoglobin in a sample of blood. This test can help to distinguish between different medical conditions caused by problems with hemoglobin.
  • Genetic testing can help determine what specific type of thalassemia you have.
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