Thalassaemia

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Treatment

Most individuals with thalassaemia require no treatment. All individuals with a diagnosis of thalassaemia who are planning a family are strongly encouraged to seek genetic counselling to understand the implications for their offspring. This requires the laboratory to perform genetic testing of their partner so that the genetic counsellor provides accurate information about the risk of passing on affected genes to their children and the severity of the thalassasemia or haemoglobinopathy that may develop.

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.

Often changes in the red cell indices are observed when a woman is pregnant, this may at times lead to severe anaemia. Understanding the impact of the diagnosis of thalassaemia on pregnancy and the possible health consequences for a couple’s offspring is one of the most important reasons to obtain an accurate diagnosis of thalassaemia.

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.

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