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Human Molecular Genetics 2004 13(Review Issue 2):R203-R206; doi:10.1093/hmg/ddh250
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Human Molecular Genetics, Vol. 13, Review Issue 2 © Oxford University Press 2004; all rights reserved

Thalassemia in Sri Lanka: a progress report

Anuja Premawardhena1, Shanthimala de Silva2, Mahinda Arambepola3, Nancy Olivieri4, Laura Merson4, Julia Muraco4, Angela Allen5, Christopher Fisher5, Timothy Peto5, Elliot Vichinsky6 and David Weatherall5,*

1Department of Medicine, University of Kelaniya, Sri Lanka, 2Lady Ridgeway Hospital for Children, Colombo, Sri Lanka, 3National Thalassaemia Centre, General Hospital, Kurunegala, Sri Lanka, 4Hemoglobinopathy Research, University Health Network, Toronto, Canada, 5Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK and 6Children's Hospital, Oakland, USA

Received June 17, 2004; Revised July 12, 2004; Accepted July 27, 2004

The thalassemias pose an increasing burden for health-care services in many Asian countries. In order to conserve rare resources, it is essential to determine the reasons for the remarkable phenotypic heterogeneity and natural history of these disorders so that the most cost-effective methods for their control and management can be established. A long-term observational study of patients with different forms of thalassemia in Sri Lanka suggests that in addition to the well-defined primary, secondary and tertiary genetic modifiers, environmental factors, particularly malaria, and variation in the ability to adapt to the profound anaemia which characterizes these conditions, may play a significant role in determining their clinical severity. These findings may have important implications for the control and management of thalassemia in Asian populations.

* To whom correspondence should be addressed at: Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK. Tel: +44 1865222360; Fax: +44 1865222424; Email: david.weatherall{at}imm.ox.ac.uk


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