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Hematopoietic stem cell transplantation in thalassemia

Abstract

SCT still remains the only cure currently available for patients with thalassemia. Results of transplants in this disease have steadily improved over the last two decades due to improvements in preventive strategies, effective control of transplant-related complications and development of new preparative regimens. Currently, high-resolution HLA typing has enabled physicians to perform transplants from unrelated volunteer donors for thalassemia with results comparable with those obtained employing an HLA-identical sibling. The probabilities for obtaining thalassemia-free survival after transplant in thalassemia from an HLA-identical donor, family member or MUD are between 85 and 87%. Therefore, when an HLA-identical donor is present, the transplant of allogeneic stem cell should be performed as allogeneic gene therapy. In the light of advances in transplantation for thalassemia, patients with an HLA-identical donor should be offered SCT.

Main

β-Thalassemias are the most common genetic diseases worldwide. Although improvements in conservative treatment have considerably improved the prognosis of thalassemia, disease- and treatment-related complications in these patients progress over time, causing severe morbidity and shortened life expectancy. SCT still remains the only cure currently available for patients with thalassemia. SCT consists of allogeneic stem cell gene therapy today while waiting for autologous genetically modified SCT in the future. The results of transplants in this disease have steadily improved over the last two decades due to improvements in preventive strategies, effective control of transplant-related complications and development of new preparative regimens. Risk classes-based approach to transplantation in thalassemia led to disease-free survival probability of 87, 85 and 82% in classes 1, 2 and 3 patients, respectively. Adult thalassemia patients are higher risk patients for transplant-related toxicity due to an advanced phase of disease and have a cure rate of 62% with current treatment protocol. The major limitation of SCT is the lack of an HLA-identical sibling donor for the majority of affected patients. In fact, approximately 25–30% of thalassemic patients could have a matched sibling donor. Therefore, there is need to develop alternative stem cell donations. Currently, high-resolution HLA typing has enabled physicians to perform transplant from unrelated volunteer donors for thalassemia, with results comparable with those obtained employing an HLA-identical sibling. Patients who do not have matched family or unrelated donors could benefit from haploidentical mother to child transplantation. Although a small number of patients have been transplanted until now, the results of this type of transplantation are encouraging. Current understanding of stable mixed chimerism in patients with hemoglobinopathies provides a rationale for the use of less intensive conditioning regimens and future gene therapy. Despite recent advances in animal models, the clinical application of gene therapy for hemoglobinopathies is unlikely to be a reality for at least in the near future.

In the light of advances in transplantation for thalassemia, patients with an HLA-identical donor should be offered SCT.

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None of the authors declared any financial interests.

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Correspondence to G Lucarelli.

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Gaziev, J., Sodani, P. & Lucarelli, G. Hematopoietic stem cell transplantation in thalassemia. Bone Marrow Transplant 42, S41 (2008). https://doi.org/10.1038/bmt.2008.112

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Keywords

  • thalassemia
  • SCT
  • alternative donors

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