Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item Studies in haemoglobin E beta-thalassaemia(Wiley-Blackwell, 2008) Olivieri, N. F.; Muraca, G. M.; O Donnell, A.; Premawardhena, A.; Fisher, C.; Weatherall, D. J.Haemoglobin E beta-thalassaemia is the commonest form of severe thalassaemia in many Asian countries, but little is known about its natural history, the reasons for its clinical diversity, or its optimal management. Despite its frequency, haemoglobin E beta-thalassaemia is often managed in an ill-defined and haphazard way, usually by demand transfusion. We studied a cohort of Sri Lankan patients with haemoglobin Ebeta-thalassaemia over 5 years, and identified several genetic and environmental factors possibly contributing to the phenotypic diversity of the disorder. These included modifiers of haemoglobin F production, malaria and age-related changes in adaptation to anaemia. Our findings suggest that in many patients, haemoglobin E beta-thalassaemia can be managed without transfusion, even with low haemoglobin levels. Age-related changes in the pattern of adaptation to anaemia suggest that more cost-effective approaches to management should be explored.Item Hemoglobin E-[beta] Thalassemia: Progress Report from the International Study Group(Wiley-Blackwell, 2005) Premawardhena, A.; de Silva, S.; Arambepola, M.; Olivieri, N. F.; Vichinsky, E. P.; Merson, L.; Muraco, G.; Allen, A.; Fisher, C.; Peto, T.; Weatherall, D. J.A long-term observational study of Hb E-beta-thalassemia in Sri Lanka is beginning to define some of the genetic and environmental factors that are responsible for its remarkable phenotypic variability. In this population there is a very small difference between the steady-state hemoglobin levels between the mild and severe phenotypes, and it has been possible to stop transfusion in many of those who have been on long-term treatment of this kind. These preliminary observations, made over the last 7 years, provide directions for future research into this increasingly important disease.Item Haemoglobin E beta thalassaemia in Sri Lanka(Lancet Publishing Group, 2005) Premawardhena, A.; Fisher, C.A.; Olivieri, N.F.; de Silva, S.; Arambepola, M.; Perera, W.; O Donnell, A.; Peto, T.E.; Viprakasit, V.; Merson, L.; Muraca, G.; Weatherall, D.J.Haemoglobin E beta thalassaemia is the commonest form of severe thalassaemia in many Asian countries, but little is known about its natural history, the reasons for clinical diversity, or its management. We studied 109 Sri Lankan patients with the disorder over 5 years. 25 patients were not receiving transfusion; transfusion was stopped with no deleterious effect in a further 37. We identified several genetic and environmental factors that might contribute to the phenotypic diversity of the disorder, including modifiers of haemoglobin F production, malaria, and age-related changes in adaptive function. Our findings suggest that haemoglobin E beta thalassaemia can be managed without transfusion in many patients, even with low haemoglobin levels. Age-related changes in the pattern of adaptation to anaemia suggest that different and more cost-effective approaches to management should be explored.