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Asian-Oceanian Journal of Pediatrics and Child Health Volume Three December 2004 Number Two
Thalassaemia in Malaysia: Confronting THE issues and mapping THE strategies
Rahman Jamal MD, MRCP, PhD Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Malaysia. Correspondence: Professor Dr. A Rahman A Jamal Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaakob Latif, Bandar Tun Razak, Cheras, 56000 Kuala Lumpur Tel: 603-91702189 Fax: 603-91737827 e-mail: rahmanj@mail.hukm.ukm.my
Thalassaemia: A disease without the ‘glamour’ Some diseases attract the attention of the public at the mere mention of their names. Diseases like cancer, heart disease, diabetes, stroke and AIDS all evoke immediate response, sympathy and even fear the moment they are quoted. However, many in Malaysia are still ignorant about thalassaemia and would require a lengthy explanation on the condition. The majority of parents of patients are caught by surprise when first told of the diagnosis whilst others blamed each other for carrying the disease. Yet we are actually referring to the commonest single gene disorder in the world with an estimated 300,000 affected births each year1. It is also the commonest single gene disorder in Malaysia and surprisingly public awareness of this condition is still dismal. This is an inherited disorder affecting the synthesis of the globin chains (which are part of the haemoglobin, the oxygen carrying complex) causing the red blood cells to become prone to haemolysis. Erythropoiesis becomes overactive to compensate but this is ineffective. All marrow cavities expand because of this. Patients develop chronic haemolytic anaemia, hepatosplenomegaly (due to extramedullary erythropoiesis) and require regular blood transfusions. The typical life of an individual after being diagnosed with beta thalassaemia major (usually in late infancy) is destined with monthly visits to the hospital (or daycare centers) for blood transfusions. After 2-3 years, it would be necessary to start on iron chelation which involves a subcutaneous infusions of desferrioxamine over 8-12 hours for 5-7 days a week. Depending of the compliance of the patient with the iron chelation, he/she would then have to cope with a life of uncertainty as the level of iron starts to accumulate in the body. Those who cannot afford iron chelation or who have poor compliance would soon develop complications of iron overload. They would be shorter in stature compared to their peers, have delayed puberty and developed increasing pigmentation of their skin. They would have maxillary prominence, frontal bossing (the so-called thalassaemic facies) and hepatosplenomegaly. The second decade would see the emergence of more complications such as abnormal glucose metabolism and even diabetes. As iron continues to accumulate in the heart, cardiac problems manifest either as arrhythmias or the penultimate event of congestive cardiac failure. The parents on the other hand have to struggle with acceptance of the condition from the time of diagnosis. They would probably have heard of thalassaemia for the first time in their lives. They would also have to adjust to a life structured by monthly trips to the hospital, and finally getting a quite a shock at the high cost of iron chelation therapy. Even when they managed to acquire funds for the desferrioxamine, some may face problems coping with the difficult situations of getting their children to use and comply with the medication. Some persuade, some coax whilst other have to physically grapple with their kids every night to get the infusion going. But that is not the end. Parents would soon have to cope with a child with different ‘needs’ from his/her peers but also the normal siblings, whilst also witnessing the onset of one complication of iron overload after another.
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Latest Journal Volume Three December 2004 Number Two
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Updated July 2006 |
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