Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399406010805; 9 May 2006
Fabrizia Urbinati, Catherine Madigan and Punam Malik (2006) Pathophysiology and therapy for haemoglobinopathies; Part II: thalassaemias.
Expert Rev. Mol. Med. Vol. 8, Issue 10, DOI: 10.1017/S1462399406010805

Pathophysiology and therapy for haemoglobinopathies

Part II: thalassaemias

Fabrizia Urbinati, Catherine Madigan and Punam Malik

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Thalassaemias result from mutations of the globin genes that cause reduced or absent haemoglobin production and thus interfere with the critical function of oxygen delivery. They represent the most common single-gene disorders, with 4.83% of the world population carrying globin gene variants. Reduced or absent a-globin (a-thalassaemia) or b-globin (b-thalassaemia) leads to anaemia and multifaceted clinical syndromes. In this second of two reviews on the pathophysiology of haemoglobinopathies, we describe the clinical features, pathophysiology and molecular basis of a- and b-thalassaemias. We then discuss current targeted therapies, including the new oral iron chelators, which, along with chronic transfusions, constitute the mainstay of symptomatic therapy for the majority of patients. Finally, we describe potentially curative therapies, such as bone marrow transplant, and discuss some of the outstanding research studies and questions, including the upcoming field of gene therapy for b-thalassaemia. An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease.

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Free features associated with this article
Figure 1. Factors that can contribute to, and those that can ameliorate, iron overload in the thalassaemias.
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Table 1. b-Thalassaemia.
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Table 2. a-Thalassaemia.
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Table 3. Mainstay of symptomatic therapy of transfusion-dependent thalassaemia.
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