Studies in haemoglobin E beta‐thalassaemia

Journal article

N. Olivieri, G. Muraca, A. O’Donnell, A. Premawardhena, C. Fisher, D. Weatherall
British journal of haematology, 2008

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APA Click to copy
Olivieri, N., Muraca, G., O’Donnell, A., Premawardhena, A., Fisher, C., & Weatherall, D. (2008). Studies in haemoglobin E beta‐thalassaemia. British Journal of Haematology.

Chicago/Turabian Click to copy
Olivieri, N., G. Muraca, A. O’Donnell, A. Premawardhena, C. Fisher, and D. Weatherall. “Studies in Haemoglobin E Beta‐Thalassaemia.” British journal of haematology (2008).

MLA Click to copy
Olivieri, N., et al. “Studies in Haemoglobin E Beta‐Thalassaemia.” British Journal of Haematology, 2008.

BibTeX Click to copy

@article{n2008a,
  title = {Studies in haemoglobin E beta‐thalassaemia},
  year = {2008},
  journal = {British journal of haematology},
  author = {Olivieri, N. and Muraca, G. and O’Donnell, A. and Premawardhena, A. and Fisher, C. and Weatherall, D.}
}

Abstract

Haemoglobin E β‐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 β‐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 E β‐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 β‐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.