Treatments

Most individuals with thalassaemia require no treatment. Such patients may want to consider genetic counselling, however, because they may pass the trait or disease on to their children.

Patients with haemoglobin H disease or beta thalassaemia intermedia will experience variable amounts of Anaemia throughout their life. They can lead relatively normal lives but will require regular monitoring and may occasionally need a blood transfusion. Folic acid supplementation is often given to help combat Anaemia but iron supplementation is to be avoided unless iron deficiency has been confirmed with more specific tests.

Those with beta thalassaemia major will usually require blood transfusions about every 3 or 4 weeks throughout their life. These transfusions help maintain haemoglobin at a high enough concentration to provide oxygen to the body and prevent growth abnormalities and organ damage. Frequent transfusions, however, raise iron to toxic levels, resulting in deposits of iron in the liver, heart and other organs. Regular iron chelation therapy is used to help decrease iron in the body. This involves the administration of a drug that binds with the iron and helps flush it out of the body through the urine. A splenectomy may also be required.

Fetuses with alpha thalassaemia major are usually miscarried, stillborn, or die shortly after birth. Treatment is centred on identifying the condition, and either terminating the pregnancy or monitoring the mother for complications. Experimental treatments, such as fetal blood transfusions, have been successful in a very few cases in bringing a baby to term.