Thalassemia

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 may confirm a diagnosis using blood tests.

If your child has thalassemia, blood tests may reveal:

A low level of red blood cells
Smaller than expected red blood cells
Pale red blood cells
Red blood cells that are varied in size and shape
Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope

Blood tests may also be used to:

Measure the amount of iron in your child's blood
Evaluate his or her hemoglobin
Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin 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 may be. Tests used to diagnose thalassemia in fetuses include:

Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.

Assisted reproductive technology

A form of assisted reproductive technology that combines preimplantation genetic diagnosis with in vitro fertilization may help parents who have thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. The procedure involves retrieving mature eggs and fertilizing them with sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those without genetic defects are implanted into the uterus.
Treatment

Treatment for thalassemia depends on which type you have and how severe it is.
Treatments for mild thalassemia

Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications.

People with severe beta-thalassemia will need blood transfusions. And because this treatment can cause iron overload, they will also need treatment to remove excess iron. An oral medication called deferasirox (Exjade, Jadenu) can help remove the excess iron.
Treatments for moderate to severe thalassemia

Treatments for moderate to severe thalassemia may 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. To help your body get rid of the extra iron, you may need to take medications that rid your body of extra iron.

Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant may be an option in select cases, including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

During this procedure, you receive infusions of stem cells from a compatible donor, usually a sibling.