Insight onto the pathophysiology and clinical complications of thalassemia intermedia

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

Research output: Contribution to journalArticle

Abstract

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
JournalHemoglobin
Volume33
Issue numberSUPPL. 1
DOIs
Publication statusPublished - 2009

Fingerprint

Fetal Hemoglobin
beta-Thalassemia
Chelation
Stem cells
Iron
Modulation
Extramedullary Hematopoiesis
Chelation Therapy
Leg Ulcer
Hematopoietic Stem Cell Transplantation
Gallstones
Pulmonary Hypertension
Thrombosis
Guidelines
Phenotype
Therapeutics

Keywords

  • Complications
  • Pathophysiology
  • Review
  • Thalassemia intermedia

ASJC Scopus subject areas

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

Cite this

Insight onto the pathophysiology and clinical complications of thalassemia intermedia. / Cappellini, Maria D.; Musallam, Khaled M.; Taher, Ali T.

In: Hemoglobin, Vol. 33, No. SUPPL. 1, 2009.

Research output: Contribution to journalArticle

Cappellini, Maria D. ; Musallam, Khaled M. ; Taher, Ali T. / Insight onto the pathophysiology and clinical complications of thalassemia intermedia. In: Hemoglobin. 2009 ; Vol. 33, No. SUPPL. 1.
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