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Hematopoietic Stem Cell Transplantation for Thalassemia

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Allogeneic Stem Cell Transplantation

Part of the book series: Contemporary Hematology ((CH))

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Abstract

The thalassemias are a group of hemoglobin disorders characterized by a reduced synthesis of one or more of the globin chains (α, β, γ, δβ, γδβ, δ and εγδβ) and are the commonest monogenic disorders to cause a major public health problem in the world [1]. It is estimated that there are 270 million carriers of hemoglobin disorders, of whom 80 million are carriers of β thalassemia. The clinical manifestations of β-thalassemia are extremely diverse, ranging from the transfusion-dependent state of thalassemia major to slightly less severe transfusion-dependent state of thalassemia intermedia or to the asymptomatic state of thalassemia trait. The most severe form of this disease is characterized by the complete absence of β-globin production and results from the inheritance of two β0 thalassemia allels, homozygous or compound heterozygous states. These combinations usually result in β-thalassemia major and the patients present themselves within 6 months of life with severe anemia, and if not treated with regular blood transfusions, die within the first 2 years. The anemia is due to a combination of ineffective erythropoiesis, excessive peripheral red blood cell hemolysis, and progressive splenomegaly.

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Authors and Affiliations

  1. International Centre for Transplantation in Thalassemia and Sickle Cell Anemia, Mediterranean Institute of Hematology, Rome, Italy

    Javid Gaziev & Guido Lucarelli

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  1. Javid Gaziev
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  2. Guido Lucarelli
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Editors and Affiliations

  1. University Hospitals Case Medical Center, Cleveland, OH, USA

    Hillard M. Lazarus

  2. Case Western Reserve University, Cleveland, OH, USA

    Mary J. Laughlin

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Gaziev, J., Lucarelli, G. (2010). Hematopoietic Stem Cell Transplantation for Thalassemia. In: Lazarus, H.M., Laughlin, M.J. (eds) Allogeneic Stem Cell Transplantation. Contemporary Hematology. Humana Press. https://doi.org/10.1007/978-1-59745-478-0_28

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  • DOI: https://doi.org/10.1007/978-1-59745-478-0_28

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