title: Hemoglobin E-beta-thalassemia: Progress report from the International Study Group.
abstract: 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 there is a very small difference between the steady-state hemoglobin levels between the mild and severe phenotypes, and it has been possible to stop transfusion in many of those who have been on long-term treatment of this kind. These preliminary observations, made over the last 7 years, provide directions for future research into this increasingly important disease.
authors.affiliation: Department of Medicine, University of Kelaniya, Kelaniya, Sri Lanka.
authors.forename: Anuja
authors.initials: A
authors.lastname: Premawardhena
authors.forename: Shanthimala
authors.initials: S
authors.lastname: De Silver
authors.forename: Mahinda
authors.initials: M
authors.lastname: Arambepola
authors.forename: Nancy F
authors.initials: NF
authors.lastname: Olivieri
authors.forename: Elliott P
authors.initials: EP
authors.lastname: Vichinsky
authors.forename: Laura
authors.initials: L
authors.lastname: Merson
authors.forename: Giulia
authors.initials: G
authors.lastname: Muraco
authors.forename: Angela
authors.initials: A
authors.lastname: Allen
authors.forename: Christopher
authors.initials: C
authors.lastname: Fisher
authors.forename: Timothy
authors.initials: T
authors.lastname: Peto
authors.forename: David J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000293:Adolescent; D000328:Adult; D001803:Blood Transfusion / Q000706:statistics & numerical data; D019090:Case Management; D002648:Child; D002675:Child, Preschool; D003131:Combined Modality Therapy; D004921:Erythropoietin / Q000097:blood; D005260:Female; D018740:Genetic Heterogeneity; D006446:Hemoglobin E / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007223:Infant; D007391:International Cooperation; D019190:Iron Overload / Q000453:epidemiology / Q000209:etiology; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D012720:Severity of Illness Index; D013156:Splenectomy; D013188:Sri Lanka / Q000453:epidemiology; D065227:Transfusion Reaction; D017086:beta-Thalassemia / Q000097:blood / Q000145:classification / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy
chemical_list: D006454:Hemoglobins; D004921:Erythropoietin; D006446:Hemoglobin E