Thalassemia | Diagnosis & Treatment

How is thalassemia diagnosed?

A diagnosis of thalassemia is made after tests to discover which type of thalassemia a child might have. Those tests include:

  • a complete blood count (CBC) to measure the number of red blood cells and their concentration of hemoglobin, as well as many other red cell features
  • hemoglobin electrophoresis
  • genetic tests to identify specific genetic defects that cause thalassemia

After those tests are complete, doctors will be able to outline the best treatment options.

What are the treatment options for thalassemia?

Thalassemia treatment for children requires a multidisciplinary effort, including specialists in hematology and transfusion medicine as well as cardiologists, endocrinologists, gastroenterologists, audiologists, ophthalmologists, infectious disease specialists, geneticists and genetic counselors as necessary.

Treatment for thalassemia depends on the severity of the disorder. If your child has transfusion dependent thalassemia, she will require life-long, ongoing medical care, which may include:

  • Blood transfusions from healthy donors, which can alleviate anemia. How often transfusions are necessary will depend on the type of thalassemia. Because of transfusions bring with them the risk of iron overload (which can cause organ damage), children receiving frequent transfusions should be monitored carefully. We use specialized magnetic resonance imaging technologies such as FerriScan and T2* to look for signs of iron overload.
  • Iron chelation therapy, which reduces the amount of iron in the body and prevents or treats iron overload.
  • Stem cell transplantation to replace the blood-forming stem cells with the defective hemoglobin gene(s). Stem cell transplantation can cure thalassemia by replacing defective blood-forming stem cells with healthy stem cells from a donor. Unfortunately it may not be an option for everyone. The success of a transplant depends on many factors, such as how close the match is between child and donor (matched siblings are best; if your child has a sibling, there is a 1 in 4 chance they will be a match) and the patient's age. The degree to which your child's bone marrow has failed also factors into the discussion whether to pursue a transplant. The decision of whether to proceed with a stem cell transplant should be discussed with your child’s hematologist and a stem cell transplant team.

In general, children with non-transfusion dependent thalassemia experience less severe symptoms. They need regular medical follow-up, but may not require frequent blood transfusions.

What’s the long-term outlook for children with thalassemia?

In the past, patients with transfusion dependent thalassemia had a significantly reduced life expectancy. Today, however, thanks to blood transfusion therapy and effective iron chelators, the life expectancy for children with severe thalassemia is constantly improving. Once rare, survival to older adulthood is becoming the norm.