Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six transfusion-dependent beta-thalassemia major patients were treated with allogeneic peripheral blood stem cell (PBSC) transplant. The donors were HLA identical siblings except one donor who was a father with one-antigen mismatch of HLA-B loci. The donors were mobilized with G-CSF and PBSC was infused without manipulation. Engraftment was documented in all patients. Acute graft versus host disease (GvHD) was present in 4 patients but could be controlled with steroid or/and ATG. One patient died of hepatic veno-occlusive disease (HVOD) and survivors were all transfusion independent (ex-thalassemia). Chronic GvHD occurred in one patient. Allogeneic PBSC transplantation could achieve disease-free survival in beta-thalassemia major patients.
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PMID:Allogeneic peripheral blood stem cell transplantation in beta-thalassemia. 1221 90

Stem cell transplantation (SCT) remains the only cure for thalassaemia major. Recent advances in medical treatment make it even more important that accurate information is available regarding outcome of SCT in relevant patient populations in order to guide informed decisions regarding the most appropriate treatment for individual thalassaemia patients. We report the results of 55 consecutive first related allogeneic bone marrow transplants (BMT) for children with beta-thalassaemia major performed in two UK paediatric centres over 10 years. Between February 1991 and February 2001, 55 children underwent 57 allogeneic BMT. The median age at BMT was 6.4 years and the majority of patients (73%) originated from the Indian subcontinent. Using the Pesaro risk classification, 17 patients were class 1, 27 were class 2 and 11 were class 3. Actuarial overall survival and thalassaemia-free survival at 8 years were 94.5% (95% CI 85.1-98.1) and 81.8% (95% CI 69.7-89.8) respectively. Despite the majority of patients being in class 2 or 3, transplant-related mortality was low (5.4%). The principal complication was graft rejection accompanied by autologous reconstitution that occurred in 13.2% of transplants. Following modification of the conditioning regimen in 1993, the rejection rate fell to 4.6% and remained low. Acute graft-versus-host disease (GVHD) of grade II-IV occurred in 31% and chronic GVHD in 14.5%. These data compare favourably with survival with medical treatment for thalassaemia major and suggest that allogeneic BMT remains an important treatment option for children with beta-thalassaemia major, particularly when compliance with iron chelation is poor.
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PMID:Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres. 1254 89

Allogeneic hematopoietic stem cell transplantation is the only curative therapy for severe beta-thalassemia. This time, the experience of utilizing HLA 2-loci mismatched sibling cord blood transplantation (CBT) in a child with severe beta-thalassemia was firstly reported in our country. A 3-year-male patient had been diagnosed with severe beta-thalassemia at 6 months of age (HbF 86.6%, HbA1 1.7%, HbA2 1.7%, beta globin gene mutation CD17, A-->T/IVS-II-654, C-->T). The patient's HLA typing was A 24,11, B 58,35 and DRB1 03,15. During a subsequent maternal pregnancy. The prenatal diagnosis for thalassemia and prenatal HLA typing analysis were performed on 18 weeks of pregnancy. The results indicated that the male fetus was a heterozygote (beta globin gene mutation N/CD17, A-->T), HLA typing was A 24,11, B 58,51 and DRB1 03,12. 120 ml cord blood was collected at time of delivery, the total numbers of nucleated cells, CFU-GM and CD34(+) cells were 1.830 x 10(9), 16.653 x 10(5) and 3.11 x 10(6), respectively. A new conditioning regimen including: hypertransfusion, continuous i.v. desferrioxamine, busulfan, cyclophosphamide, antithymocyte globulin plus hydroxyurea and fludarabine. GVHD prophylaxis comprised cyclosporin A and mycophenolate mofetil. The viability of cord blood at the time infusion was 92%, The total numbers of nucleated cells, CFU-GM and CD34(+) cells in the transfused cord blood were 12.06 x 10(7)/kg, 1.098 x 10(5)/kg, and 2.04 x 10(6)/kg, respectively. Results showed that the patient's clinical course after cord blood transplantation was unremarkable. Acute GVHD grade I developed on day 15, methylprednisolone 2 mg/kg was given to cure. Neutrophil engraftment (ANC > 0.5 x 10(9)/L) on day 17, platelet engraftment (> 50 x 10(9)/L) on day 50. The patients became independent from red blood cell transfusion since day 80 (when his hemoglobin level kept > 12.5 g/L). His beta globin gene mutation and HLA typing were all the same as the donor's analyzed on day 60 and 200. There was also a switch in blood group from A pre-transplant to O post-transplant. It is concluded that the new conditioning and GVHD prophylaxis regimens allow a successful engraftment in this case. This observation may contribute in developing UCBT as an alternative when matched sibling donors are not available.
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PMID:[Two HLA-loci mismatched sibling cord blood transplantation in a severe beta-thalassemia patient]. 1266 97

To determine the outcome of children with homozygous beta-thalassemia (beta/beta) and severe beta-thalassemia/hemoglobin E disease (beta/E) who underwent allogeneic peripheral blood stem cell transplantation (PBSCT). The authors conducted a cohort study of allogeneic PBSCT in beta/beta and beta/E patients who had 6/6 or 5/6 HLA-matched sibling donors. All patients received a conditioning regimen including busulfan and cyclophosphamide, except one who received busul-fan and cyclophosphamide plus antithymocyte globulin. Graft-versus-host disease (GVHD) prophylaxis consisted of cyclosporine A and methotrexate for eight patients and cyclosporine and mycophenolate mofetil for one patient. Donors received G-CSF for 4 days before leukapheresis collections. There were five beta/beta and four beta/E patients in this study. The median age was 9 years (range 1.5-10 years). The median CD34+ cell count was 7.4 x 10(6) cells/kg recipient body weight. All patients achieved neutrophil and platelet engraftment with a median time of 15 days and 21 days respectively. Acute GVHD grade 2 to 4 appeared in four patients (grade 2, n = 3; grade 4, n = 1). Three patients developed chronic GVHD (limited, n = 2; extensive, n = 1). All patients were alive with a median follow-up time of 23 months (range 7-52 months). Neither graft failure nor graft rejection was observed. Allogeneic PBSCT is feasible for children with beta/beta and beta/E, although the incidence of GVHD was apparently high compared with bone marrow transplant study in Thais.
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PMID:Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease. 1508 53

Hematopoietic stem cell transplantation (HSCT) is a highly effective treatment strategy for lymphoproliferative disorders and bone marrow failure states including aplastic anemia and thalassemia. However, its use has been limited by the increased treatment related complications, including acute kidney injury (AKI) with an incidence ranging from 20% to 73%. AKI after HSCT has been associated with an increased risk of mortality. The incidence of AKI reported in recipients of myeloablative allogeneic transplant is considerably higher in comparison to other subclasses mainly due to use of cyclosporine and development of graft-versus-host disease (GVHD) in allogeneic groups. Acute GVHD is by itself a major independent risk factor for the development of AKI in HSCT recipients. The other major risk factors are sepsis, nephrotoxic medications (amphotericin B, acyclovir, aminoglycosides, and cyclosporine), hepatic sinusoidal obstruction syndrome (SOS), thrombotic microangiopathy (TMA), marrow infusion toxicity, and tumor lysis syndrome. The mainstay of management of AKI in these patients is avoidance of risk factors contributing to AKI, including use of reduced intensity-conditioning regimen, close monitoring of nephrotoxic medications, and use of alternative antifungals for prophylaxis against infection. Also, early identification and effective management of sepsis, tumor lysis syndrome, marrow infusion toxicity, and hepatic SOS help in reducing the incidence of AKI in HSCT recipients.
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PMID:Acute Kidney Injury in Hematopoietic Stem Cell Transplantation: A Review. 2788 40