Hemoglobin E‐β‐Thalassemia: Progress Report from the International Study Group
PREMAWARDHENA A., DE SILVER S., ARAMBEPOLA M., OLIVIERI NF., VICHINSKY EP., MERSON L., MURACO G., ALLEN A., FISHER C., PETO T., WEATHERALL DJ.
Abstract: 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.