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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adolescent
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Adult
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Blood Transfusion / statistics & numerical data
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Case Management
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Child
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Child, Preschool
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Combined Modality Therapy
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Erythropoietin / blood
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Female
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Genetic Heterogeneity*
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Hemoglobin E / genetics*
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Hemoglobins / analysis
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Humans
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Infant
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International Cooperation
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Iron Overload / epidemiology
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Iron Overload / etiology
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Longitudinal Studies
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Male
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Middle Aged
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Phenotype
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Pregnancy
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Pregnancy Complications, Hematologic
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Severity of Illness Index
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Splenectomy
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Sri Lanka / epidemiology
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Transfusion Reaction
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beta-Thalassemia / blood
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beta-Thalassemia / classification
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beta-Thalassemia / epidemiology*
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beta-Thalassemia / genetics
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beta-Thalassemia / therapy
Substances
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Hemoglobins
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Erythropoietin
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Hemoglobin E