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)

Bone marrow transplantation is increasingly used to treat a spectrum of diseases in man, including immune and genetic disorders, hematological diseases, and cancer. Approximately 11,000 transplants have been performed worldwide since 1970. About two-thirds of these transplants have involved donors, including related and unrelated individuals, and in the remaining third the patient's bone marrow has been used in the form of an autotransplant. In some disorders and under carefully defined circumstances, bone marrow transplantation appears to be the preferred therapy; these diseases include aplastic anemia, acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, and selected immune and genetic disorders. In other circumstances, the value of bone marrow transplantation is less well defined. Diseases in which bone marrow transplantation may be of benefit include Hodgkin's and non-Hodgkin's lymphoma, other cancers, thalassemia, hemoglobinopathies, genetic disorders, and possibly multiple myeloma. It has been difficult to precisely identify the role of bone marrow transplantation in many of these diseases. Prospective randomized controlled clinical trials have sometimes shown an advantage for bone marrow transplantation, but in most circumstances a benefit is as yet unproven. In the U.S. the annual incidence of individuals with diseases in which bone marrow transplantation is thought to be of proven benefit is approximately 5,400, and an additional 15,000 individuals annually have diseases in which bone marrow transplantation is thought to be of possible benefit. This study reviews data available from both controlled and uncontrolled clinical trials indicating the potential role of bone marrow transplantation in the treatment of human diseases.
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PMID:Clinical trials of bone marrow transplantation. 352 45

We reported a case of a thrombosis of the retinal and central artery and vein in a 44-year-old patient, with high-grade T-cell lymphoma. Cardiovascular family history and a medical history of cerebral ischemia caused by in situ fibrinolysis, led to perform thorough hematologic and genetic examinations. These disclosed a prothrombin gene G 20210 a variant in a homozygous state. In a heterozygous state, this mutation leads to an increase in plasma prothrombin rate of the order of 30%. Therefore, it is considered to be a major risk factor for venous thrombotic disease. Otherwise, acute leukemia or non-Hodgkin's lymphoma may induce thrombosis of retinal artery and vein by means of an optic nerve infiltration, as well as beta-thalassemia, ocular trauma and retrobulbar anesthesia. Retinal central artery and vein are seldom both involved; whereas occlusions of their branches are more frequent.
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PMID:[Mixed retinal thrombosis in a patient carrying prothrombin gene mutation in a homozygote state]. 1060 75

A retrospective survey was conducted over a 10-year period (1990-99) among 52 haematology divisions in order to evaluate the clinical and laboratory characteristics and outcome of patients with proven Pneumocystis carinii pneumonia (PCP) complicating haematological diseases. The study included 55 patients (18 with non-Hodgkin's lymphoma, 10 with acute lymphoblastic leukaemia, eight with acute myeloid leukaemia, five with chronic myeloid leukaemia, four with chronic lymphocytic leukaemia, four with multiple myeloma, three with myelodysplastic syndrome, two with myelofibrosis and one with thalassemia) who developed PCP. Among these, 18 (33%) underwent stem cell transplantation; only two received an oral prophylaxis with trimethroprim/sulphamethoxazole. Twelve patients (22%) developed PCP despite protective isolation in a laminar airflow room. The most frequent symptoms were: fever (86%), dyspnoea (78%), non-productive cough (71%), thoracic pain (14%) and chills (5%); a severe hypoxaemia was present in 39 patients (71%). Chest radiography or computerized tomography showed interstitial infiltrates in 34 patients (62%), alveolar infiltrates in 12 patients (22%), and alveolar-interstitial infiltrates in nine patients (16%). Bronchoalveolar lavage was diagnostic in 47/48 patients, induced sputum in 9/18 patients and lung biopsy in 3/8 patients. The diagnosis was made in two patients at autopsy. All patients except one started a specific treatment (52 patients trimethroprim/sulphamethoxazole, one pentamidine and one dapsone). Sixteen patients (29%) died of PCP within 30 d of diagnosis. Multivariate analysis showed that prolonged steroid treatment (P < 0.006) and a radiological picture of diffuse lung involvement (P < 0.003) were negative diagnostic factors.
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PMID:Pneumocystis carinii pneumonia in patients with malignant haematological diseases: 10 years' experience of infection in GIMEMA centres. 1197 21

In Vietnam, the first three cases of Allo-BMT were successfully performed in 1995 at the Blood Transfusion and Hematology Hospital (BT-H) of Ho Chi Minh City. Donors were HLA fully matched siblings (HLA-A, HLA-B and HLA-DRB1). The patients were a 26-year-old man with CML in chronic phase (CP), a 12-year-old woman with beta-thalassemia/Hb E and a 9-year-old girl with beta-thalassemia/Hb E. All patients were engrafted with the median time to recover ANC>0.5 x 10(9)/l, and platelet count >20 x 10(9)/l was 16 and 38 days. At 12 years after transplantation, all three patients are alive and well. Today, Vietnam has five SCT centers; in the north, there are three centers: 108 Military Hospital, Pediatric Institute and Blood transfusion and Hematology Institute; in the middle of Vietnam is Hue Hospital and in the south, the BT-H Hospital of Ho Chi Minh City. Until now, 65 patients have had SCT in Vietnam; among them, 52 patients had SCT at the BT-H Hospital, Ho Chi Minh City. Because of no connection of data between different SCT centers, we present here only the results performed at the BT-H Hospital, Ho Chi Minh City. With Allo-SCT we performed 19 cases with 3 procedures: BMT (4 cases), PBSC (6 cases) and cord blood transplantation (9 cases); patients were diagnosed with AML (n=7), ALL (n=1), CML (n=5) and beta-thalassemia (n=6). Following transplantation, 7 patients (36.84%) relapsed, 12 (63.16%) remained alive and overall survival times: 6.81+/-1.35 years, disease-free survival times: 6.69+/-1.4 years (range 0.5-12 years). With Auto-SCT: since November 1996, we have performed 33 cases of autologous PBSC transplantation consisting of without cryopreservation (24 cases) and with cryopreservation (9 cases); patients were diagnosed with AML in CR1 (n=21), ALL in CR1 (n=6), CML in CP (n=5) and non-Hodgkin's lymphoma in CR1 (n=1). The median age of the patients was 35 years (range 18-46). The median time to recover ANC >0.5 x 10(9)/l and platelet count >20 x 10(9)/l was 14 days (range 9-25 days) and 35 days (range 9-120 days). Following transplantation, 18 patients (54.50%) relapsed, 15 (45.45%) remained alive and overall survival times: 5.74+/-0.82 years and disease-free survival times: 5.48+/-0.92 years. There was no statistically significant difference of overall survival and disease-free survival between Allo-SCT and Auto-SCT procedures (P>0.05). These preliminary data suggest that HSCTs have been used as one of the standard treatments for hematological diseases and malignancies in Vietnam and that cord blood is an alternative source of hematopoietic stem cells for allogeneic transplantation in children.
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PMID:Current status of hematopoietic stem cell transplantations in Vietnam. 1872 91

From March 1991 through 31st December 2007, 2042 patients underwent stem cell transplantation at the Hematology-Oncology and Stem Cell Transplantation Research Center, affiliated to Tehran University of Medical Sciences. These transplantations included 1405 allogeneic stem cell transplantation, 624 autologous stem cell transplantation, and 13 syngeneic stem cell transplantation. Stem cell transplantation was performed for various diseases including acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, chronic lymphoblastic leukemia, thalassemia major, sickle cell thalassemia, sickle cell disease, multiple myeloma, myelodysplasia, mucopolysaccharidosis, paroxysmal nocturnal hemoglobinuria, non-Hodgkin's lymphoma, Hodgkin's disease, severe aplastic anemia, plasma cell leukemia, Niemann-Pick disease, Fanconi anemia, severe combine immunodeficiency, congenital neutropenia, leukocyte adhesion deficiencies, Chediak-Higashi syndrome, osteopetrosis, histiocytosis X, Hurler syndrome, amyloidosis, systemic sclerosis, breast cancer, Ewing's sarcoma, testicular cancer, germ cell tumors, neuroblastoma, medulloblastoma, renal cell carcinoma, nasopharyngeal carcinoma, ovarian cancer, Wilms' tumor, rhabdomyosarcoma, pancreatoblastoma, and multiple sclerosis. We had 105 cellular therapies for postmyocardial infarction, multiple sclerosis, cirrhosis, head of femur necrosis, and renal cell carcinoma. About 30 patients were retransplanted in this center. About 74.9% of the patients (1530 of 2042) remained alive between one to 168 months after stem cell transplantation. Nearly 25.1% (512 of 2042) of our patients died after stem cell transplantation. The causes of deaths were relapse, infections, hemorrhagic cystitis, graft versus host disease, and others.
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PMID:Stem cell transplantation; Iranian experience. 1911 Oct 33

In Taiwan, haematopoietic stem cell transplantation (HSCT) has been used to treat patients with haematological diseases since 1983. Thereafter till 2007, there were 2537 patients who had undergone HSCT in more than 15 hospitals. Their diseases included acute myeloid leukaemia in 27.8% of cases, non-Hodgkin's lymphoma 23.3%, acute lymphoblastic leukaemia 12.8%, chronic myeloid leukaemia 11.9%, severe aplastic anaemia 8.7%, and multiple myeloma 4.1%. Most of the cases received myeloablative conditioning regimens. More than 15% of cases received non-myeloablative regimens, and the mean age of these cases was at least 10 years older than those who received myeloablative regimens. The types of graft included peripheral blood (60.4%) and bone marrow (32.0%). A total of 35% of patients received autologous grafts. Of 1557 allogeneic HSCT patients, 338 (21.7%) received grafts from unrelated donors. Cord blood transplantation has been successfully performed in paediatric patients with thalassaemia major and with a large body size, and adult patients. The incidence of acute graft-versus-host disease was relatively low in Taiwan. On the contrary, a relatively higher proportion of hepatitis B carrier in the recipients had led to a higher incidence of reactivation hepatitis, which was markedly decreased following lamivudine prophylaxis. In conclusion, HSCT has become a routine therapy for major medical centres in Taiwan. Our unique experiences in the past decades also contributed to the progress of HSCT. With the establishment of professional association and patient supportive groups, we hope we can fully improve our daily practice and clinical as well as basic research in HSCT.
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PMID:Haematopoietic stem cell transplantation in Taiwan: past, present, and future. 1949 90