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Hemoglobin E‐β‐Thalassemia: Progress Report from the International Study Group
Author(s) -
PREMAWARDHENA ANUJA,
SILVER SHANTHIMALA,
ARAMBEPOLA MAHINDA,
OLIVIERI NANCY F.,
VICHINSKY ELLIOTT P.,
MERSON LAURA,
MURACO GIULIA,
ALLEN ANGELA,
FISHER CHRISTOPHER,
PETO TIMOTHY,
WEATHERALL DAVID J.
Publication year - 2005
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1345.005
Subject(s) - observational study , thalassemia , hemoglobin , sri lanka , hemoglobin e , population , medicine , phenotype , disease , hemoglobin variants , pediatrics , demography , biology , geography , genetics , environmental health , gene , environmental planning , sociology , tanzania
A bstract : A long‐term observational study of Hb E‐β‐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.