Thalassemia is a very common genetic disorder. Worldwide, several million people have thalassemia disorders and about 300 million people carry the genetic trait for thalassemia.
Ellis Neufeld, MD, PhD, director of the Thalassemia Program
Normally, red blood cells carry oxygen throughout your child’s body using a special protein called hemoglobin. In thalassemia, an inherited blood disorder, the body’s ability to produce hemoglobin is compromised, causing anemia that can range from mild to life-threatening.
Severe forms of thalassemia require life-long follow-up care and regular blood transfusions. Some other forms are more manageable and require little or no treatment. At the mildest end, thalassemia “minor,” also called thalassemia trait, isn’t a disease at all.
- Children with thalassemia major require ongoing treatment and blood transfusions to stay healthy. Milder forms of thalassemia require less aggressive treatment.
- Thalassemia mainly affects people from Southeast Asia, Africa and around the Mediterranean Sea.
- It affects hemoglobin, the protein inside red blood cells that helps them carry oxygen from the lungs to all parts of the body.
- There are three main types of thalassemia: minor, major and intermedia.
- Thalassemia can affect the alpha or beta genes that are vital to hemoglobin production.
- Thalassemia is inherited, passed from parents to their children through their genes.
- All types of thalassemia can be identified by blood tests.
- Treatment for thalassemia depends on the subtype of the disorder, but may include treatment for anemia, blood transfusions, and treatment for the effects of blood transfusions, such as iron overload.
How Children’s Hospital Boston approaches thalassemia
At Children’s Thalassemia Program, our experts provide comprehensive care for children and adults with all forms of thalassemia. About our team:
Specialists in hematology, transfusion medicine and genetics lead our care team. Specialists in cardiology, endocrinology, gastroenterology, audiology, ophthalmology, infectious disease and genetic counseling join your child’s care team when needed.
We offer expertise in thalassemia treatment, as well as access to the latest clinical trials.
We offer advanced imaging techniques to monitor children for transfusion-related iron overload, including FerriScan and T2*.
We have a full-time thalassemia nurse practitioner who works with you to identify your and your child’s needs and coordinates your child’s care.
We offer access to the Pediatric Stem Cell Transplantation Program at Dana-Farber/Children’s Hospital Cancer Care.
We are involved in a number of research initiatives aimed at improving thalassemia care including:
- investigating the effectiveness of a new oral iron chelator, a type of drug that removes excess iron from the blood
- improving existing chelation therapies
- using stem cell transplants to cure patients with thalassemia major
- developing new ways to assess iron levels in the body
improving the effectiveness of currently available thalassemia treatment
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Reviewed by Ellis Neufeld, MD
© Children’s Hospital Boston, 2010