Hemoglobin E-beta-thalassemia: Progress report from the International Study Group.
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.
Premawardhena
Anuja
A
Department of Medicine, University of Kelaniya, Kelaniya, Sri Lanka.
De Silver
Shanthimala
S
Arambepola
Mahinda
M
Olivieri
Nancy F
NF
Vichinsky
Elliott P
EP
Merson
Laura
L
Muraco
Giulia
G
Allen
Angela
A
Fisher
Christopher
C
Peto
Timothy
T
Weatherall
David J
DJ
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
D006454:Hemoglobins; D004921:Erythropoietin; D006446:Hemoglobin E