Thalassaemia Clinical Management

The Red Blood Cells (RBC) of people with beta Thalassaemia major are small (microcytic) and immature when released into circulation, they do not have the right concentration of haemoglobin (hypochromic), they are fragile and inefficient at carrying oxygen around the body, they become damaged and are therefore, targeted for destruction by the reticuloendothelial cells. When this occurs the iron they contain is extracted and stored in the liver for re-use in making new RBCs.

Life long blood transfusion remain the only treatment available therefore individuals are dependent on long term medical management and require transfusion at four to eight week intervals approximately.

It should be noted that individuals are still able to absorb iron from their diet, this combined with the iron released from prematurely destroyed RBCs, and iron in the blood that is transfused increases the amount of iron in the body and leads to severe and chronic iron overload. This is the main cause of damage to major organs the heart, liver, pancreas and kidneys especially.

In order to facilitate the excretion of excess iron in the body and rectify iron overload individuals need to have iron chelation therapy. This is done by self injection (in the case of children this is done by the parents) of a chelating agent called desferrioxamine (Desferal). This is administered using a continuous subcutaneous route via a chelation pump, and is given on average for five nights a week, running for approximately eight hours per therapy session.

The effectiveness of chelation is dependent on the individual’s willingness and ability to adhere to the prescribed treatment. After many years of having four weekly blood transfusions, five nights a week chelation and other adjunct therapy makes living with Thalassaemia major cumbersome and individuals may fail to maintain their treatment, thus risking development of fatal complications especially that of iron overload. As with other life long chronic conditions the psychological management of this patient group is essential and need to be part of a holistic care plan.

Oral chelators have been licensed for use in the UK and other countries. The oral chelator Deferiprone is not as effective in removing excess iron as desferrioxamine but is better than nothing for those patients who have difficulty complying with the use of subcutaneous chelation therapy. The oral chelator Exjade has been shown to be more effective than Deferiprone however its cost makes it somewhat prohibitive; whilst some health care purchasers (Primary Care Trusts in the NHS) have agreed to fund their use others are reluctant to give their approval but the drug has become more widely used in the UK.

Other therapies for this patient group include daily Penicillin and use of vitamin C to aid Desferal in its role as a chelating agent. Un-transfused patients are also given folic acid 5mg / week.

Close monitoring of cardiac, liver and endocrine function are vital in order to identify impending complications with the intention of preventing them if possible or managing them if they cannot be fully controlled. Pubertal development need to be closely monitored and managed.

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