Thalassemia intermedia: revisited

Abstract

Thalassemia intermedia encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some thalassemia intermedia patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of clinical complications commonly associated with thalassemia intermedia are rarely seen in thalassemia major, including extramedullary hematopoiesis, leg ulcers, gallstones and thrombophilia. Prevention of these complications, possibly with blood transfusion therapy, is ideal since they may be difficult to manage. Currently, many patients with thalassemia intermedia receive only occasional or no transfusions, since they are able to maintain hemoglobin levels between 7-9 g/dl; the risk of iron overload, necessitating adequate chelation therapy, is also a contributing factor. At present, there are no clear guidelines for initiating and maintaining transfusions in thalassemia intermedia for the prevention or treatment of complications. Here, we review the major clinical complications in thalassemia intermedia and suggest some therapeutic strategies based on retrospective clinical observations.