[Current management of thalassemia intermedia]

Abstract

Thalassemia intermedia is a clinical entity where anemia is mild or moderate, requiring no or occasional transfusion. Non-transfusion-dependent thalassemia encompasses 3 main clinical forms: beta-thalassemia intermedia, hemoglobin E/beta-thalassemia and alpha-thalassemia intermedia (HbH disease). Clinical severity of thalassemia intermedia increases with age, with more severe anemia and more frequent complications such as extramedullary hematopoiesis and iron overload mainly related to increased intestinal absorption. Numerous adverse events including pulmonary hypertension and hypercoagulability have been associated with splenectomy, often performed in thalassemia intermedia patients. The potential preventive benefit of transfusion and chelation therapies on the occurrence of numerous complications supports the strategy of an earlier therapeutic intervention. Increasing knowledge about pathophysiological mechanisms involved in thalassemia erythropoiesis and related iron overload is currently translating in novel therapeutic approaches.

Keywords: Chelation therapy; Dyserythropoiesis; Dysérythropoïèse; Hydroxycarbamide; Iron overload; Non-transfusion-dependent thalassemia; Splenectomy; Splénectomie; Surcharge en fer; Thalassemia intermedia; Thalassémie intermédiaire; Thalassémie non dépendante des transfusions; Traitements chélateurs du fer; Transfusion; Transfusions.