Hemoglobin E-beta-thalassemia: Progress report from the International Study Group

Ann N Y Acad Sci. 2005;1054:33-9. doi: 10.1196/annals.1345.005.

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

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Blood Transfusion / statistics & numerical data
  • Case Management
  • Child
  • Child, Preschool
  • Combined Modality Therapy
  • Erythropoietin / blood
  • Female
  • Genetic Heterogeneity*
  • Hemoglobin E / genetics*
  • Hemoglobins / analysis
  • Humans
  • Infant
  • International Cooperation
  • Iron Overload / epidemiology
  • Iron Overload / etiology
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Phenotype
  • Pregnancy
  • Pregnancy Complications, Hematologic
  • Severity of Illness Index
  • Splenectomy
  • Sri Lanka / epidemiology
  • Transfusion Reaction
  • beta-Thalassemia / blood
  • beta-Thalassemia / classification
  • beta-Thalassemia / epidemiology*
  • beta-Thalassemia / genetics
  • beta-Thalassemia / therapy

Substances

  • Hemoglobins
  • Erythropoietin
  • Hemoglobin E