Insight onto the pathophysiology and clinical complications of thalassemia intermedia

Maria D. Cappellini, Khaled M. Musallam, Ali T. Taher

Research output: Contribution to journalArticlepeer-review


Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassemia phenotypes. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years. A number of clinical complications commonly associated with TI are rarely seen in thalassemia major, including extramedullary hematopoiesis, leg ulcers, gallstones, thrombosis, and pulmonary hypertension. There are a number of options currently available for managing patients with TI, including transfusion therapy, iron chelation therapy, modulation of fetal hemoglobin production, and hematopoietic stem cell transplantation. However, at present, there are no clear guidelines for an orchestrated optimal treatment plan.

Original languageEnglish
Issue numberSUPPL. 1
Publication statusPublished - 2009


  • Complications
  • Pathophysiology
  • Review
  • Thalassemia intermedia

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

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