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Studies in haemoglobin E beta‐thalassaemia
Author(s) -
Olivieri Nancy F.,
Muraca Giulia M.,
O’Donnell Angela,
Premawardhena Anuja,
Fisher Christopher,
Weatherall David J.
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07126.x
Subject(s) - malaria , medicine , hemoglobinopathy , cohort , pediatrics , natural history , blood transfusion , beta thalassaemia , thalassemia , hemoglobin e , immunology , hemolytic anemia
Summary 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 identied several genetic and environmental factors possibly contributing to the phenotypic diversity of the disorder. These included modiers of haemoglobin F production, malaria and age‐related changes in adaptation to anaemia. Our ndings 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.