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Conference Abstract
›
National Medical Students Paediatric Conference (NMSPC) 2014, Brighton, UK
›
A Public Health Problem: Management of Thalassemia in Malaysia
A Public Health Problem: Management of Thalassemia in Malaysia
Rahima Khatun*
University of Aberdeen, UK*
Abstract
Background
Thalassemia is the most common single gene disorder worldwide and has developed into a global health problem. It is a genetic disorder of haemoglobin where there is a mutation in either the alpha chain or the beta chain of the haemoglobin molecule which results in symptomatic anaemia. Treatment involves life-long blood transfusions and currently bone marrow transplantation is the only curative method.
Method
All patients with a diagnosis of thalassemia managed by the Paediatric Oncology department at Sarawak General Hospital (SGH), Kuching, Malaysia were eligible for inclusion and 32 case notes were finally reviewed.
Results
71.9% had a confirmed diagnosis of beta thalassemia major, 6.3% had a diagnosis of beta thalassemia intermedia, 18.8% had HbE/beta thalassemia and 3.1% patient had HbH disease documented in their notes. The mean age at presentation was 1 year and 6 months with an equal male to female ratio. Pallor was recorded in all the notes as the main presenting feature. All patients had Hb electrophoresis to confirm their diagnosis and 19 patients also had DNA tests to look for specific gene mutations. 31 patients were under regular blood transfusions for their management and 29 of those on iron chelation therapy. Only one patient was currently on a waiting list for a haematopoietic stem cell transplant.
Conclusion
Just as the literature has described presentation of the major thalassemia disorders are usually under 2 years of life. Patients have their diagnosis confirmed by quantifying the levels of the haemoglobins in blood. DNA tests are done to provide genetic counselling to parents. Most patients were being treated with regular blood transfusions. The major complication in transfusion-dependent patients found in this study was iron overload due to decreased compliance with therapy.
How to Cite URL :
Khatun R.. Available From : http://www.pediatriconcall.com/conference/abstract/33/view/826
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