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Diagnosis

Thalassemia can be diagnosed in different ways. Some types can be found on routine blood tests that show that the red blood cells are small or the patient is anemic. Testing of parents can be done before pregnancy to determine whether there is a risk of having a child with a severe form of thalassemia. The illness can be seen in sophisticated genetic testing, and can be found prenatally through amniocentesis or chorionic villus sampling (CVS).
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