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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.

Original publication

DOI

10.1196/annals.1345.005

Type

Conference paper

Publication Date

2005

Volume

1054

Pages

33 - 39

Keywords

Adolescent, Adult, Blood Transfusion, Case Management, Child, Child, Preschool, Combined Modality Therapy, Erythropoietin, Female, Genetic Heterogeneity, Hemoglobin E, Hemoglobins, Humans, Infant, International Cooperation, Iron Overload, Longitudinal Studies, Male, Middle Aged, Phenotype, Pregnancy, Pregnancy Complications, Hematologic, Severity of Illness Index, Splenectomy, Sri Lanka, Transfusion Reaction, beta-Thalassemia