title: Haemoglobin E beta thalassaemia in Sri Lanka.
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 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.
authors.affiliation: National Thalassaemia Centre, General Hospital, Kurunegala, Sri Lanka.
authors.forename: A
authors.initials: A
authors.lastname: Premawardhena
authors.forename: C A
authors.initials: CA
authors.lastname: Fisher
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
authors.forename: S
authors.initials: S
authors.lastname: de Silva
authors.forename: M
authors.initials: M
authors.lastname: Arambepola
authors.forename: W
authors.initials: W
authors.lastname: Perera
authors.forename: A
authors.initials: A
authors.lastname: O'Donnell
authors.forename: T E A
authors.initials: TE
authors.lastname: Peto
authors.forename: V
authors.initials: V
authors.lastname: Viprakasit
authors.forename: L
authors.initials: L
authors.lastname: Merson
authors.forename: G
authors.initials: G
authors.lastname: Muraca
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000293:Adolescent; D000328:Adult; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D005260:Female; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D013156:Splenectomy; D013188:Sri Lanka; D017086:beta-Thalassemia / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy
chemical_list: D006446:Hemoglobin E