Blood Home > Thalassemia Diagnosis

A thalassemia diagnosis is often made based on a complete blood count (which provides information on the various blood cells) and on hemoglobin studies. Because severe anemia can be a symptom of the disease, blood tests are often run when the patient belongs to an ethnic group that is at risk for the condition. Genetic testing may also help a doctor when making a thalassemia diagnosis, as can prenatal testing.

How Is a Thalassemia Diagnosis Made?

A thalassemia diagnosis is made by using blood tests, including a complete blood count (CBC), and special hemoglobin studies.

Blood Tests Used to Make a Thalassemia Diagnosis

A CBC provides information about the amount of hemoglobin in the blood and the different kinds of blood cells in the blood. People with thalassemia have less hemoglobin than normal and fewer red blood cells than normal in their blood. Carriers of the trait may have fewer red blood cells than normal.
Hemoglobin studies measure the types of hemoglobin in a blood sample.

Thalassemia Diagnosis Based on Severe Anemia

Cooley's anemia is usually diagnosed in early childhood, when there are signs and symptoms, such as severe anemia. People with milder forms of thalassemia may receive a diagnosis after a routine blood test shows that they have anemia. Doctors usually suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for the condition.
To distinguish iron deficiency anemia from anemia caused by thalassemia, your doctor will test the amount of iron in your blood.

Thalassemia Diagnosis Based on Genetic Testing

Family genetic studies also help in making a thalassemia diagnosis. Genetic testing involves taking a family history and doing blood tests on family members.
Prenatal testing can determine if an unborn baby has thalassemia and how severe the disease is.
(Click Thalassemia and Pregnancy for more information.)
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Last reviewed by: Arthur Schoenstadt, MD
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