Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.
Factors that increase your risk of thalassemia include:
The symptoms of thalassemia can vary. Some of the most common ones include:
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
If your doctor is trying to diagnose thalassemia, they’ll likely take a blood sample. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. Abnormally shaped red blood cells are a sign of thalassemia. The lab technician may also perform a test known as hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing them to identify the abnormal type.
Depending on the type and severity of the thalassemia, a physical examination might also help your doctor make a diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.
The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.
Some of the treatments include:
Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you need blood transfusions. People who receive blood transfusions receive extra iron that the body can’t easily get rid of. Iron can build up in tissues, which can be potentially fatal.
If you’re receiving a blood transfusion, you may also need chelation therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.
In most cases, you can't prevent thalassemia. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you're thinking of having children.