A doctor will diagnose thalassemia by asking for a family medical history and performing a complete blood count (CBC) test. Your blood will undergo morphology, or a smearing under a microscope to classify the blood by its color, shape, and size. The percentage of red blood cells in your plasma (a measurement known as hemocrit) will also be taken into account.
People with thalassemia should not take iron supplements, though people with other forms of anemia may benefit from iron.
Treatment for thalassemia varies from patient to patient depending on the type of thalassemia present. People with thalassemia minor may require no treatment. However, thalassemia major patients will require lifelong medical attention.
To treat thalassemia major, the most common protocol is red blood cell transfusions. The patient needs a steady supply of red blood cells with normal hemoglobin to carry oxygen throughout the body. The number of blood transfusions recommended varies from country to country. In the United States, transfusions can be delivered as often as every two weeks but in most cases are given every three to four weeks.
As a result of frequent blood transfusions, the thalassemia major patient’s body will have iron overload. If the overload is not treated with chelation therapy, the patient could die from organ failure.
Bone marrow transplant (BMT) eliminates the need for transfusions in some people with thalassemia. However, the procedure is not a practical cure for most people as research is still being performed on its efficacy in treating thalassemia.
To prevent thalassemia, see your doctor about genetic testing before you become pregnant.