Diagnosis

Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests.

Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

Prenatal testing

Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be. Tests used to diagnose thalassemia in fetuses include:

• Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
• Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.