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)

In the year 1992, 203 teams in 26 countries in Europe performed a total of 6065 bone marrow transplantations (BMT). Transplant source in 2666 cases (44%) was an allogeneic donor, in 2171 cases an HLA-identical sibling donor, in 170 a non-identical family donor, in 29 a twin donor and in 296 cases an unrelated volunteer donor. There were 3399 autologous transplants (56%): 2494 autologous BMT, 644 autologous peripheral blood stem cell transplants and 261 combined autologous BM and peripheral blood stem cell transplants. Indications for transplant were leukemias in 2963 patients (49%; 1987 allogeneic, 976 autologous), lymphoproliferative disorders in 1890 patients (31%; 201 allogeneic, 1689 autologous), solid tumors in 739 patients (12%; 10 allogeneic, 739 autologous), aplastic anemia in 194 patients (3%; 193 allogeneic, 1 autologous), thalassemia in 128 patients (2%; allogeneic), inborn errors in 115 patients (2%; allogeneic) and miscellaneous disorders in 36 patients (32 allogeneic, 4 autologous). Compared with an EBMT survey 2 years ago, there was an increase in the number of participating institutions and in the number of transplants performed from all sources. If the 142 teams reporting in 1990 and 1992 are compared alone, there is an increase in unrelated allogeneic BMT and in autologous BMT. There was an increase in autologous transplants for myeloma and lymphoma. These data confirm a continuing trend to apply BMT as a therapeutic modality.
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PMID:Bone marrow transplantation activity in Europe 1992: report from the European Group for Bone Marrow Transplantation (EBMT). 801 52

Bone marrow transplantation (BMT) was carried out on 38 patients with thalassaemia major over a period of 9 years; 30 were Asian. In all cases, the donor was an HLA-identical relative. The mean age at transplant was 6.4 years (range 0.5-20 years). Conditioning was busulphan and cyclophosphamide (CY). Cyclosporin (CsA) (n = 30), CsA + methotrexate (n = 6) or CsA + T cell depletion (n = 2) were used for prophylaxis against graft-versus-host disease (GVHD). Thirty-four patients successfully engrafted. Two patients required a second transplant and two achieved mixed chimerism, eventually rejecting their grafts. Nine patients (23.6) developed acute GVHD grade III-IV. Eleven patients (28.9) developed chronic GVHD. There were 11 deaths, 7 within the first 100 days post-BMT. Twenty-seven patients are alive from 156 to 3213 days post-BMT. The actuarial survival at 9 years post-BMT was 70%. The mortality is higher than in previously reported series; possible reasons for this are discussed.
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PMID:Bone marrow transplantation for thalassaemia: experience of two British centres. 805 8

A substantial proportion of patients undergoing allogeneic bone-marrow transplantation (BMT) develop moderate-to-severe acute graft-versus-host disease (GVHD). Anti-recipient helper (interleukin-2-producing) T-lymphocyte precursors (HTLp) have an important role in the control and amplification of the alloreactive immune response that initiates GVHD. We used a limiting dilution assay to measure the frequency of HTLp in the blood of marrow donors for 25 patients undergoing genotypically HLA-identical BMT for chronic myeloid leukaemia (n = 20), acute myeloid leukaemia (4), or thalassaemia (1). HTLp frequencies in donor blood ranged from 1 in 18 x 10(3) to less than 1 in 500 x 10(3); they were significantly higher (p = 0.02) in patients with grade II-IV acute GVHD than in those with grade 0-1 GVHD. The HTLp assay seems sufficiently sensitive to detect clinically significant minor histocompatibility antigen differences between the donor and recipient. The assay should prove valuable in selecting the best donor/recipient combination and could indicate the need to intensify GVHD prophylaxis when the only available donor has a high HTLp frequency.
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PMID:Frequency of anti-recipient alloreactive helper T-cell precursors in donor blood and graft-versus-host disease after HLA-identical sibling bone-marrow transplantation. 809 98

Investigation of microcytic anemia with normal ferrous status in two members (father and daughter) of a Swiss family originating from Bern revealed high levels of HbA2 (4%, 7.3%) and HbF (3.2%, 3.1%). Direct sequence analysis of asymmetrically amplified DNA showed the ATG-->ACG mutation in the intiation codon of the beta-globin gene. Heterozygous beta-thalassemia was not found in either of the propositus's parents or in any of his brothers and sisters. Extended restriction fragment length polymorphism haplotyping of the beta chromosomes led us to the conclusion of a recent spontaneous mutation in the paternal germ cell. The results of routine HLA and blood group testing supported the stated paternity. We also found that the intragenic sequence polymorphisms (frameworks) are not always in linkage disequilibrium with the Bam HI polymorphism downstream from the beta-globin gene as previously observed. This is the second family found to carry this initiation codon mutation in the beta-globin gene. Unlike the first reported family, of Yugoslavian origin, our patients have high HbF levels and this in the absence of a C-->T substitution at -158 site 5' to G gamma.
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PMID:De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family. 809 43

Today, bone marrow transplantation (BMT) is an established therapy. This statement is best verified by the number of BMTs performed. Between January 1990 and December 1992, 172 European teams in 26 countries carried out a total of 14,334 transplants. There were 6642 allogeneic transplants: 5513 BMT from an HLA-identical sibling donor, 370 from a non-identical family member, 88 from an identical twin donor and 671 from an unrelated volunteer donor. There were 7692 autologous transplants: 6577 autologous bone marrow, 777 peripheral-blood stem-cell and 338 combined bone-marrow and peripheral-blood stem-cell transplants. Indications were: leukaemias in 52% (7479), lymphoproliferative disorders in 29% (4125), solid tumours in 11% (1540), aplastic anaemia and thalassaemia in 3% (487) and inborn errors an miscellaneous disorders in the remaining 5% (703). The results of these transplants are not yet known. From previous analyses it can be expected that more than 50% of patients will be alive and well 10 years after BMT. The main factors influencing outcome are known; they depend on type, sub-type, stage of disease at time of transplant, the time from diagnosis to transplant and the conditioning regimen for all transplants. For allogeneic BMT, donor source, donor and recipient age, sex, donor/recipient sex combination, donor and recipient viral status, graft-versus-host disease prevention method and region are additional factors. Knowledge of these factors enables us today to estimate the potential risk and adjust the therapy for an individual patient.
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PMID:Bone marrow transplantation today. 815 55

A 16-year-old Sardinian girl affected by homozygous beta-thalassaemia was submitted to allogeneic BMT using an HLA-identical, MLC-negative, unrelated donor. The donor and the patient were homozygous for the entire extended haplotype A30, Cw5, B18, F130, DRB1*0301, DRB3*0202, DQA1*0501, DQB1*0201 and heterozygous for DPB1*0301/DPB1*0202. The conditioning regimen consisted of 14 mg/kg busulphan and 160 mg/kg cyclophosphamide. Engraftment was achieved 14 days from BMT and the haematological reconstitution was complete without any signs of acute or chronic GVHD. Seven months after the transplant the patient was in excellent general condition. The hypothesis is advanced that when two HLA extended haplotypes are shared by donors and recipients, particularly in homozygosity, this is a very favourable immunogenetic condition in unrelated BMT.
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PMID:Successful unrelated bone marrow transplantation in beta-thalassaemia. 819 74

Early trials of allogeneic bone marrow transplantation (BMT) for homozygous beta-thalassemia and the analyses of results of transplantation in patients less than 16 years old have allowed us to identify three classes of risk using the criteria of degree of hepatomegaly, the degree of portal fibrosis and the quality of the chelation treatment given before the transplant. Patients for whom all three criteria were adverse constituted class 3, patients with none of the adverse criteria constituted class one and patients with one or various association of the adverse criteria formed Class 2. Most patients older than 16 years have disease characteristics that place them in class 3 with very few in class 2. For all the patients with an HLA identical donor we are actually using two Protocols for BMT to whom the patients are assigned on the base of the class they belong to at the time of BMT and independently on the age of the patient. For class 1, class 2 and for class 3 the probabilities of survival and of event-free-survival are respectively of 98% and 94%, 87% and 84%, 100% and 67%. For those patients that were older than 16 years at the time of the transplant, the probabilities of survival are 82% and the probabilities of event-free survival are 79%. Bone marrow transplantation is a new form of radical treatment of thalassemia in those patients with an HLA identical donor.
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PMID:Bone marrow transplantation for thalassemia. 826 88

Combined DNA analysis, molecular cytogenetic and immunological techniques have been used to identify the donor origin of common acute lymphoblastic leukaemia (cALL) which arose in a male patient with beta thalassaemia major, 5 years after an allogeneic bone marrow transplant from his HLA-matched sister. The necessity of using multiple techniques in this and similar cases is emphasized and the possible mechanisms for the development of donor leukaemia and the leukaemic transformation of donor cells are discussed.
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PMID:Leukaemia arising in donor cells following allogeneic bone marrow transplantation for beta thalassaemia demonstrated by immunological, DNA and molecular cytogenetic analysis. 828 Jun 5

Thalassemia major is a progressive disease. Modern therapy with transfusions and iron chelation has greatly improved both the quality and length of thalassemics life. Nevertheless, progressive overload of iron in the organs, hepatitis and other infections acquired randomly imply the risk of mortality that increases with age. Bone marrow transplant from an HLA identical donor (a possibility for about 45%) represents the only form of radical cure of the disease. With the classification of the classes of risk we know today that a thalassemic child has a chance to die from transplant 3 to 100 with probability of being cured 94%. Thalassemics that receive the transplant at a more advanced stage of complications of the disease have a major risk of death due to the transplant of class 2 (14% probability of death due to the transplant against 83% chance of being cured). Class 43 patients have 9 chances out of 100 to die of transplant and 60% probability of being cured of thalassemia.
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PMID:[Bone marrow transplantation in thalassemia]. 830 17

In 1991 171 teams in 21 European countries performed 4976 bone marrow transplants. There were 1829 transplants from an HLA-identical sibling donor, 101 from a nonidentical family member, 30 from a twin, 217 from an unrelated volunteer donor and 2799 autologous transplants. Indications for transplants were leukaemias in 2569 (52%), lymphoproliferative disorders in 1472 (30%), solid tumours in 549 (11%), aplastic anaemia and thalassaemia in 261 (5%), inborn errors in 97 and miscellaneous disorders in 28 patients. There are marked differences between the participating European countries. They relate to absolute numbers, indications and techniques. Less than 10 transplants per 10-million inhabitants are performed in Eastern European countries. Ten to fifty transplants per 10-million inhabitants are done in two, 50-100 transplants per 10-million inhabitants in five, 100-200 transplants per 10-million inhabitants in eight countries and more than 200 per 10-million inhabitants in one country (P < 0.01). The number of transplant teams ranges from less than one to twelve per 10-million inhabitants (P < 0.01). For the continent it becomes 3.3 per 10-million inhabitants. The reasons for these differences are not explained by this survey. The most likely explanation for the differences in transplant activity is availability of transplant beds, trained staff and resources. Bone marrow transplants are expensive. However, the demand is increasing and will increase further with the routine availability of unrelated volunteer donors. Clearly, criteria are required in Europe to define the indications and solutions to meet the legitimate requirements for transplantation in the various regions of Europe.
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PMID:Bone marrow transplantation in Europe: major geographical differences. The European Group for Bone Marrow Transplantation [EBMT]. 846 62


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