Hematopietic Stem Cell Transplantation in Thalassemia and Related Disorders

Abstract

The basis of allogeneic hemopoietic stem cell (HSC) transplantation in thalassemia consists in substituting the ineffective thalassemic erythropoiesis with and allogeneic effective one. This cellular replacement therapy is an efficient way to obtain a long lasting, probably permanent, clinical effective correction of the anaemia avoiding transfusion requirement and subsequent complications like iron overload. The first HSC transplant for thalassemia was performed in Seattle on Dec 2, 1981. In the early eighties transplantation procedure was limited to very few centres worldwide. Between 17 December 1981 and 31 January 2003, over 1000 consecutive patients, aged from 1 to 35 years, underwent transplantation in Pesaro. After the pioneering work by the Seattle and Pesaro groups, this therapeutic approach is now widely applied worldwide. Medical therapy of thalassemia is one of the most spectacular successes of the medical practice in the last decades. In recent years advances in knowledge of iron overload patho-physiopathology, improvement and diffusion of diagnostic capability together with the development of new effective and safe oral chelators promise to further increase success of medical therapy. Nevertheless situation is dramatically different in non-industrialized countries were the very large majority of patients live today. Transplantation technologies have improved substantially during the last years and transplantation outcome is likely to be much better today than in the ‘80s. Recent data indicated a probability of overall survival and thalassemia free survival of 97% and 89% for patients with no advanced disease and of 87% and 80% for patients with advanced disease. Thus the central role of HSC in thalassemia has now been fully established. HSC remains the only definitive curative therapy for thalassemia and other hemoblobinopathies. The development of oral chelators has not changed this position. However this has not settled the controversy on how this curative but potentially lethal treatment stands in front of medical therapy for adults and advanced disease patients. In sickle cell disease HSC transplantation currently is reserved almost exclusively for patients with clinical features that indicate a poor outcome or significant sickle-related morbidity.

Beta Thalassemia Major in a Developing Country: Epidemiological, Clinical and Evolutionary Aspect

“…Alloantibodies were detected in 8.2% of our patients. These findings were in accordance with the results of Ahrens et al5 but were lower than those reported by Singer et al2 who reported a rate of alloimmunization of 44% among transfusion dependant thalassemia patients of predominantly Asian origin. This difference may be explained by several factors, family donation is frequently solicited in Tunisia explaining the antigenic homogeneity between donor’s antigens system and recipient’s RBC antigens.…”

“…Lifelong red blood cells transfusion remains the main treatment for severe homozygous beta thalassemia even if hematopoietic stem cell transplantation is more and more utilized being the only definitive curative therapy for homozygous thalassemia 2. In fact there are numerous risks and considerable morbidity associated with chronic transfusion therapy 3.…”

Clinical Effect and Mechanism of Yisui Shengxue Granules in Thalassemia Patients with Mild, Moderate, or Severe Anemia

“…Majority of the patients with thalassemia require lifelong blood transfusions [ 7 ] and iron chelation therapy [ 8 , 9 ]. Only a few patients have the opportunity for allogeneic transplantation of hematopoietic stem/progenitor cells, which is a curative but potentially hazardous therapy [ 10 ]. Conversely, patients typically have little knowledge of gene consulting and prenatal diagnosis, which contributes to a high frequency of this genetic disease [ 11 ].…”

Normalized Transcranial Doppler Velocities, Stroke Prevention and Improved Pulmonary Function after Stem Cell Transplantation in Children with Sickle Cell Anemia

“…Still, life-long regular transfusion carries its own risks, especially viral infection and iron overload. Moreover, it is costly and hard to comply with [ 8 ] . Early administration of chelating therapies has dramatically improved survival of patients with transfusiondependent disease [ 12 ] .…”