What causes thalassemia?
A defect in one or more genes causes thalassemia.
If you, either parent, or any of your siblings have thalassemia or carry a gene for thalassemia and you're thinking about having a child, you may want to talk to a genetic counselor before you get pregnant. A genetic counselor can tell you how likely it is that your child will have the disease and how severe it might be.
What are the symptoms?
Mild thalassemia usually doesn't cause any symptoms.
Moderate or severe disease may cause symptoms of anemia. For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes.
Children with severe thalassemia may grow slowly (failure to thrive), have skull bones that are not shaped normally, and have problems with feeding, frequent fevers, and diarrhea.
How is thalassemia diagnosed?
Your doctor will do an exam and ask about your health history. Tests you may need include:
- A complete blood count (CBC).
- A gene test to see if you have the genes that cause thalassemia.
- An iron level test.
- A blood test that measures the amounts of different types of hemoglobin, to help find out which type of thalassemia you have.
If you learn that you have thalassemia, your family members should to talk to their doctors about testing.
How is it treated?
Treatment depends on how severe your condition is.
Most large medical centers have treatment centers for blood disorders. They are an excellent resource to help you and your family get the best care.
- Mild thalassemia, the most common form, does not need treatment.
- Moderate thalassemia may be treated with blood transfusions and folic acid supplements. Folic acid is a vitamin that your body needs to produce red blood cells.
- Severe thalassemia may be treated with:
- Blood transfusions.
- Folic acid.
If you have repeated blood transfusions, it's possible for your body to get too much iron. This can damage your heart and other organs. Make sure to avoid vitamins that contain iron, and don't take extra vitamin C, which can increase how much iron you absorb from food. If you have too much iron, your doctor may give you chelation therapy. This is a medicine that helps remove iron from your body.