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)

Seventy-three BMT procedures (42 allogeneic-BMT, 30 autologous-BMT, 1 syngeneic transplant) were undertaken at the Shariati Hospital in Tehran between March 1991 and November 1993. Allogeneic-BMT was performed for thalassaemia major (n = 23), AML in complete remission (n = 3), severe aplastic anaemia (n = 7), CML (n = 7), dyskeratosis congenita (n = 2) and Fanconi anaemia (n = 1). Conditioning regimens comprised busulphan (BU) plus cyclophosphamide (CY) or CY only. Thirty-two (78%) of the 43 patients remain alive 1-34 months after BMT. Twelve patients died: the causes of death were haemorrhagic cystitis (n = 1), CMV pneumonitis (n = 1), GVHD (n = 3), infection (n = 3), rejection (n = 1), VOD (n = 2) and hepatitis (n = 1). Autologous-BMT was performed for patients with AML in CR (n = 16), ALL in CR (n = 9), lymphoma in relapse (n = 3), Ewing sarcoma (n = 1) and multiple myeloma (n = 1). The median age was 18 years. Conditioning regimens were Ara C plus CY, etoposide plus CY and high-dose melphalan. Sixteen (54%) of the 30 patients survive, 14 in continuous complete remission. The causes of death were relapse (AML (n = 7), ALL (n = 4), lymphoma (n = 1)), VOD (n = 1) and infection (n = 1).
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PMID:Bone marrow transplantation in Iran. 792 Mar 8

A constitutional, balanced chromosomal translocation t(11;22)(p15.5;q11.21) was discovered in a tall young man during investigation of a red cell dimorphism. The red cells are predominantly normochromic and normocytic with a small population of hypochromic, microcytic cells. Contained within the regions involved in the translocation are determinants of height (IGF2:11p15.5), red cell haemoglobinization (non-alpha globin gene complex: 11p15.5) and oncogenesis (cHa-Ras-1, Beckwith-Wiedemann syndrome: 11p15.5; BCR, Burkitts lymphoma, Ewings sarcoma: 22q11.21). To map these regions in the patient, somatic cell hybrids were generated and cell lines that segregated the chromosomes 11, 22 and 22q- were obtained. All 11p15.5 sequences investigated, in particular the whole of the non-alpha globin gene complex including its 5' and 3' regulatory sequences, were found to be translocated to 22q-. All chromosome 22 sequences studied were missing from the 22q- cell lines, including the proximal anonymous marker D22S24, and therefore assumed to be translocated to 11p+. These results suggest that the non-alpha globin gene complex has been moved close to the centromeric region of chromosome 22q-. It is postulated that such a positioning subjects the complex to a variegated position-effect bringing about a clonal exclusion of the complex and thus producing a beta-thalassaemia trait mosaic.
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PMID:Red cell dimorphism in a young man with a constitutional chromosomal translocation t(11;22)(p15.5;q11.21). 794 83

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

Primary care physicians need to be aware of the risk of infection following splenectomy, especially given the rapid onset and potentially fatal consequences of overwhelming postsplenectomy infection. Risk is highest in children, in patients who had the operation within the previous 2 years, and in patients who underwent the procedure for treatment of lymphoma or thalassemia. Three types of preventive measures are recommended: immunoprophylaxis (vaccines); chemoprophylaxis (antibiotics); and education, ranging from providing a medical alert bracelet to teaching about symptoms of febrile illness to advising immediate treatment of even a minor dog bite.
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PMID:Postsplenectomy care. Strategies to decrease the risk of infection. 866 16

Autologous- or allogeneic-bone marrow transplantation are increasingly used to overcome the myelosuppressive effects of high dose chemotherapy administered to cancer patients. Transfer of the multidrug resistance (MDR) gene in hemopoietic progenitors has been proposed as a tool to administer higher and possibly more curative doses of chemotherapy. Murine models have demonstrated that retrovirus-mediated MDR transfer in bone marrow cells can render animals resistant to myeloablative doses of Taxol, and in vitro studies have shown that MDR-transduced human CD34+ cells can generate drug-resistant multipotential hemopoietic progenitors such as long term culture-initiating cells. Given these results, phase I clinical trials are currently under way to evaluate feasibility and treatment-related toxicity of MDR gene transfer in cancer patients by means of safe retroviral vectors. Finally, Taxol treatment of MDR transduced mice and human CD34+ cells have indicated that MDR is a dominant selectable marker in vitro and in vivo, and vectors carrying both MDR and non selectable genes such as beta-globin or glucocerebrosidase could be used in the next future for gene therapy of inherited disorders like thalassemia or Gaucher disease.
Leuk Lymphoma 1996 Mar
PMID:Gene transfer-mediated generation of drug-resistant hemopoiesis. 890 64

Bone marrow transplantation (BMT) has the potential to treat hemoglobinopathies (sickle cell and thalassemia) autoimmunity (diabetes, lupus, multiple sclerosis, rheumatoid arthritis, Crohn's colitis) and enzyme deficiency states. Graft versus host disease (GVHD) is a major complication and limitation to the therapeutic application of BMT. There have been many clinical trials and experimental animal models that have attempted to control GVHD through the engineering of the donor bone marrow cells (BMC). Historically, several methods have demonstrated effectiveness in controlling GVHD; however they were also associated with a marked increase in the rate of graft failure. Highly purified hematopoietic stem cells (HSC) engraft quite readily in genetically-matched recipients while they do not engraft as easily in MHC-disparate recipients. The numbers of HSC must be increased 100-200 fold in order to overcome the allogeneic barrier. We were the first to phenotypically and to functionally characterize a novel cell in the bone marrow that enables engraftment of highly purified HSC in allogeneic recipients. The discovery of graft facilitating cell populations has resulted in the restoration of the engraftment-potential of purified HSC between genetically-disparate individuals. The addition of facilitating cells (FC) to T cell-depleted BMC grafts results in allogeneic engraftment without GVHD or graft failure. New strategies of BMC engineering that retain FC and HSC but avoid GVHD have allowed successful engraftment in mismatched and older recipients. These techniques have expanded the therapeutic potential of BMT to virtually every candidate as well as to non-malignant diseases in which the morbidity associated with conventional BMT could not be accepted. This article reviews the transition of the FC technology from bench to bedside and discuss the potentially broad-reaching applications of BMT and mixed chimerism.
Leuk Lymphoma 2001 Mar
PMID:Bone marrow cell graft engineering: from bench to bedside. 1134 54

The presenting symptoms of malignancies like anemia and splenomegaly in thalassemic patients can be overlooked and considered as complications of thalassemia. Our paper deals with a case of large B cell lymphoma with bone marrow involvement in an old lady with thalassemia intermedia. The patient showed complete response after the second cycle of chemotherapy that consists of cyclophosphamide, vincristine, and prednisone (CVP protocol). However, the patient relapsed with bone marrow involvement shortly after (2 weeks) completion of the sixth cycle of chemotherapy, and she was started on monoclonal antibodies Rituximab. On reviewing the literature, only four cases of thalassemia and lymphoma have been reported worldwide, thus making our case the fifth report of this rare combination of diseases.
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PMID:Beta-thalassemia intermedia and non-Hodgkin's lymphoma. 1240 86

Indonesia consist of many island inhabited by many ethnic groups with different social economic condition. As in other parts of the world, anemia is still one of the major health problem in Indonesia. The reported anemia prevalence differs in each area and age groups, ranging from 5.4% in well nourished preschool children to 56.3% in primary school children; and 19% to 62.5% in pregnant women. The causes of anemia mostly reported were nutritional like iron deficiency, abnormal hemoglobin besides other conditions. In Cipto Mangunkusumo Hospital as the national referral hospital in Indonesia, in the adults groups, the cause of anemia reported were 14% with iron deficiency, 54% aplastic, 16% hemolytic and 16% other causes. Whereas in the child health department the cause were 29% nutritional deficiency, 31% thalassemia, 10% aplastic, 4% hemolytic and 26% other causes. Thalassemia is quite often reported in Indonesia. In 1955 Lie-Injo first reported the HbE as the most frequently found abnormality among many ethnic groups in Indonesia, ranging from 2.5% to 13.2%. In later studies the prevalence reported varies very much. It was reported as 9.5% in newborns, 22% in pregnant women, and 15.95% to 60% in athletes. The carrier frequency in some areas was between 6-10%, while the pattern of mutation varied widely within each region. Hemophilia cases in Indonesia is still not diagnosed adequately, only 530 cases were reported. The problems were lack of diagnostic laboratories and awareness. As many as 56.9% of the hemophilia patients who received cryoprecipitate were reported positive with HCV antibody. Hematological malignancy is now also became an increasing problem in Indonesia, in child health department the prevalence of leukemia was 57%, and lymphoma 13% among other malignancies. In National Cancer hospital, the prevalence leukemia as diagnosed using morphology and flowcytometry, were 51.4% AML, 19.7% B-ALL, 14.6% T-ALL, 4.5% preB-ALL, with 9.8% cases with co expression, and 30% other malignancies. Due to geographical situation, economic condition and lack of diagnostic laboratory facility many abnormalities were unable to be diagnosed properly.
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PMID:Some hematological problems in Indonesia. 1243 Aug 66

Thalassemia is a spectrum of diseases characterized by the decrease or absence of globin chains. The occurrence of lymphoma in thalassemia has rarely been reported, and our review of the English literature revealed only four cases. Because anemia is always masked by regular transfusions in thalassemic patients, physicians discover a hidden malignancy late in the course of the disease. We hereby report the case of a thalassemic patient developing non-Hodgkin disease and discuss the possibility of a link between the two disease entities. This case is intended to alert physicians of the possibility of a malignancy in thalassemia patients.
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PMID:Non-Hodgkin disease in beta-thalassemia major. 1636 71

Myelodysplastic syndromes (MDS) are a group of disorders characterized by ineffective hematopoiesis that leads to peripheral cytopenias. Iron overload results from high transfusion requirements and retrospective studies have shown it to be associated with relatively poor survival in a subset of the low risk patients. Recent discoveries have led to the identification of hepcidin as a key regulator of iron metabolism and to the association of non-transferrin bound iron moieties, such as labile plasma iron, with the end organ damage in iron overload states. Currently, there is limited data in evaluating the role of iron chelators in MDS and data from studies in Thalassemia and hemachromostosis have been used to predict ferritin levels above 1000 - 2500 ng/mL and history of 20 blood transfusions as clinical end points for considering iron chelation in MDS. Deferoxamine and deferasirox, the two iron chelators approved for use in the US, have shown efficacy in reducing iron overload in MDS in retrospective studies are now being evaluated for effects on overall survival in prospective studies. On the basis of retrospective data, it is reasonable to offer iron chelation to the lower risk MDS patients requiring frequent transfusions, while monitoring for specific adverse affects in patients on treatment.
Leuk Lymphoma 2008 Mar
PMID:Iron overload in myelodysplastic syndromes. 1829 18


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