Treatment strategies for hemoglobin E beta-thalassemia

Abstract

Hemoglobin E beta (ß)-thalassemia (HbE thalassemia) is a very common form of β-thalassemia that exhibits a heterogeneous clinical presentation and variable clinical course. The reasons for this extraordinary clinical heterogeneity are not completely understood. A number of factors, both genetic and environmental, appear to modify the severity of HbE thalassemia. There is also an emerging understanding that the HbE thalassemia phenotype may be unstable, which may reflect changes in adaptation to anemia and, possibly, attenuation of the erythropoietin response over time. These factors make it difficult to develop broad treatment guidelines. It is now generally appreciated that steady-state hemoglobin concentration may be of limited value to determine which patients need regular transfusions. Therefore, periodic reassessment of the need for transfusion therapy is recommended, and intermittent transfusion therapy may now be explored as an approach in this disorder.