title: Studies in haemoglobin E beta-thalassaemia.
abstract: 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 E beta-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.
authors.affiliation: Hemoglobinopathy Research Program, Toronto General Hospital, University of Toronto, Toronto, ON, Canada. noliv@attglobal.net
authors.forename: Nancy F
authors.initials: NF
authors.lastname: Olivieri
authors.forename: Giulia M
authors.initials: GM
authors.lastname: Muraca
authors.forename: Angela
authors.initials: A
authors.lastname: O'Donnell
authors.forename: Anuja
authors.initials: A
authors.lastname: Premawardhena
authors.forename: Christopher
authors.initials: C
authors.lastname: Fisher
authors.forename: David J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D017410:Practice Guidelines as Topic; D013188:Sri Lanka / Q000453:epidemiology; D017086:beta-Thalassemia / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy
chemical_list: D006446:Hemoglobin E