Thalassemia

Thalassemia is an inherited blood condition. If you have it, your body has fewer red blood cells and less hemoglobin than it should. Hemoglobin is important because it lets your red blood cells carry oxygen to all parts of your body. Because of this, people with this condition may have anemia, which makes you feel tired.

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.

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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.

Treatment

Mild forms of thalassemia trait don't need treatment.

For moderate to severe thalassemia, treatments might include:

Frequent blood transfusions.

More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs.

Chelation therapy.

This is treatment to remove excess iron from your blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don't have regular transfusions can also develop excess iron. Removing the excess iron is vital for your health.

To help rid your body of the extra iron, you might need to take an oral medication, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug, deferoxamine (Desferal), is given by needle.

Stem cell transplant.

Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling.