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Browsing Medicine by Subject "beta-Thalassemia-genetics"

Browsing Medicine by Subject "beta-Thalassemia-genetics"

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  • Haemoglobin E beta thalassaemia in Sri Lanka 
    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. (Lancet Publishing Group, 2005)
    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 ...
  • Hemoglobin E-[beta] Thalassemia: Progress Report from the International Study Group 
    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. (Wiley-Blackwell, 2005)
    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 ...
  • Is the beta thalassaemia trait of clinical importance? 
    Premawardhena, A.; Arambepola, M.; Katugaha, N.; Weatherall, D. J. (Wiley-Blackwell, 2008)
    Although the beta thalassaemia trait affects millions of people worldwide, there have been no controlled studies to determine whether it is associated with any clinical disability or abnormal physical signs. To address ...
  • The Molecular basis for the thalassaemias in Sri Lanka 
    Fisher, C.A.; Premawardhena, A.P.; de Silva, S.; Perera, G.; Rajapaksa, S.; Olivieri, N.A.; Old, J.M.; Weatherall, D.J.; Sri Lanka Thalassaemia Study Group (Wiley-Blackwell, 2003)
    The beta-globin gene mutations and the alpha-globin genes of 620 patients with the phenotype of severe to moderate thalassaemia from seven centres in Sri Lanka were analysed. Twenty-four beta-globin gene mutations were ...
  • A Novel molecular basis for beta thalassemia intermedia poses new questions about its pathophysiology 
    Premawardhena, A.; Fisher, C.A.; Olivieri, N.F.; de Silva, S.; Sloane-Stanley, J.; Wood, W.G.; Weatherall, D.J. (American Society of Hematology, 2005)
    During a study of the molecular basis for severe forms of beta thalassemia in Sri Lanka, 2 patients were found to be heterozygous for beta thalassemia mutations. Further analysis revealed that one of them has a previously ...
  • Studies in haemoglobin E beta-thalassaemia 
    Olivieri, N. F.; Muraca, G. M.; O Donnell, A.; Premawardhena, A.; Fisher, C.; Weatherall, D. J. (Wiley-Blackwell, 2008)
    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 ...
  • Thalassaemia in Sri Lanka: implications for the future health burden of asian populations 
    de Silva, S.; Fisher, C.A.; Premawardhena, A.P.; Lamabadusuriya, S.P.; Peto, T.E.; Perera, G.; Old, J.M.; Clegg, J.B.; Olivieri, N.F.; Weatherall, D.J.; Sri Lanka Thalassaemia Study Group (Lancet Publishing Group, 2000)
    BACKGROUND: Thalassaemias pose an increasing problem for the Indian subcontinent and many Asian countries. We analysed the different types of thalassaemia in the Sri Lankan population, surveyed gene frequencies in ...

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