Efficacy of hematopoietic cell transplantation in beta thalassemia major
- Emanuele Angelucci, MD
Emanuele Angelucci, MD
- Head, Hematology Department
- Cagliari Hospital, Italy
The first successful hematopoietic cell transplantations (HCT) in beta thalassemia major (BTM) were reported in 1982 [1,2]. Since that time, more than 3000 such transplants have been performed worldwide . HCT has since become an accepted worldwide-applied curative option for those with BTM.
The efficacy of HCT in BTM will be reviewed here . Other issues related to transplantation in this disorder, including the pre-transplant evaluation, conditioning regimens, recurrence of thalassemia, degree of replacement of the thalassemic stem cell with a normal stem cell, and long term follow-up are discussed separately. (See "Specific issues related to hematopoietic cell transplantation in beta thalassemia" and "Long-term management of the thalassemic patient after hematopoietic cell transplantation".)
DEFINITION OF TERMS
●This review deals with the treatment of subjects with homozygous beta thalassemia (beta thalassemia major, BTM). When the general term "thalassemia" is used, it will refer only to those with BTM.
●The term "hematopoietic cell transplantation (HCT)" will be used throughout this review as a general term to cover transplantation of hematopoietic progenitor (stem) cells from any source (eg, bone marrow, peripheral blood, cord blood). Otherwise, the source of such cells will be specified. (See "Sources of hematopoietic stem cells".)
OVERVIEW OF HCT IN THALASSEMIA
Rationale — The rationale for performing hematopoietic cell transplantation (HCT) in beta thalassemia major (BTM) is that it substitutes the high degree of ineffective erythropoiesis associated with BTM with an allogeneic stem cell capable of effective erythropoiesis, while avoiding transfusion requirements and their attendant complications. HCT in thalassemia is therefore a form of cellular replacement therapy and serves as a model of HCT for nonmalignant diseases.
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- DEFINITION OF TERMS
- OVERVIEW OF HCT IN THALASSEMIA
- - Prognostic system
- - Link between medical therapy and successful transplantation
- Current results
- The Hemoglobinopathy Registry
- OTHER TRANSPLANT TECHNIQUES
- Alternative sources of hemopoietic stem cells
- - HLA-matched sibling cord blood
- - Embryo selection
- Alternative donors
- - Matched unrelated donors
- - Mismatched related donors
- - Unrelated cord blood donors
- Alternative myeloablative preparative regimens
- Nonmyeloablative conditioning regimens
- MIXED CHIMERISM
- TRANSPLANTATION VERSUS MEDICAL THERAPY
- Cost estimates
- Making the decision
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS
- Treatment options
- Who should be transplanted