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)

The enzyme-linked antiglobulin test (ELAT) was employed to measure the number of IgG molecules per red blood cell (IgG/RBC) in 11 patients with autoimmune hemolytic anemia (AIHA). All patients with AIHA had high levels of red cell-associated IgG (110-3, 650 IgG/RBC). The control group consisted of normal volunteers (N = 10) and patients with hereditary spherocytosis (N = 1), beta 0-thalassemia (N = 1), immunologic thrombocytopenic purpura (N = 3) and IgG multiple myeloma (N = 4). All control individuals presented low levels of red cell IgG (less than 38 IgG/RBC) with the exception of one of four patients with myeloma who had a mildly elevated value (50 IgG/RBC). Since the multiple myeloma patients had greater than 2 g/dl IgG, the possible nonspecific uptake of IgG onto the RBCs of patients with elevated serum IgG values did not interfere with the results of ELAT. ELAT proved to be a useful method for accurate quantification of the amount of IgG specifically bound on the surface of RBC of patients with AIHA.
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PMID:Measurement of red blood cell antibodies in autoimmune hemolytic anemia. 179 82

On July 7h, 1988 all Italian groups practicing allogeneic bone marrow transplantation (AlloBMT) convened with the objectives of performing an analysis of their clinical material and designing some cooperative retrospective and prospective studies. It was felt that, although the great majority of the Institutions performing AlloBMT contribute data to the International Bone Marrow Transplant Registry (IBMTR) and to the European Group for Bone Marrow Transplantation (EBMT), it might still be of interest to pursue specific regional studies, establish a National Registry, and program workshops and educational meetings. The Italian Group for Bone Marrow Transplantation (GITMO) was accordingly founded. It has been determined that by December 31st, 1988, 1390 AlloBMTs have been performed in Italy by 19 Centres. Fourteen have been involved in BMT for adults and children, and 5 exclusively for children. The chief indication for AlloBMT in this clinical material was chronic myelogenous leukaemia, followed by homozygous beta thalassaemia and by the acute leukaemias; severe aplastic anaemia, malignant lymphomas and multiple myeloma have also been important indications. Overall crude survival was 58.3%; this was reduced to 50% for patients over 20, while it reached 62.5% for those under 20. Other studies are in preparation, and a similar survey for Auto BMT has been presented at the GITMO Meeting of June 28, 1989, which is currently in press.
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PMID:[Allogenic bone marrow transplant in Italy]. 269 Feb 21

A rare instance of IgG-kappa monoclonal gammopathy in a patient with beta-thalassaemia trait is reported. The patient had a smoldering multiple myeloma with no apparent clinical symptoms pertaining to the disease and was a non-responder to conventional Melphalan and prednisolone therapy. Beta-thalassaemia trait was detected while investigating him for anaemia. A state of altered immunological reactivity, chronic infections and associated biliary tract disease are some of the pathogenetic mechanisms suggested. However in this patient none of these were operative.
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PMID:Monoclonal gammopathy in beta thalassaemia. 308 4

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

Marrow transplantation is effective treatment for a number of haematological diseases in patients under the age of 50 who have an HLA-identical sibling donor. It is generally successful when used early in the treatment of aplastic anaemia. It is the only treatment that offers long-term disease-free survival for patients with acute leukaemia who have relapsed at least once, with 10-30 per cent apparent cures. Although still somewhat controversial, it appears also to be the treatment of choice for patients with acute non-lymphoblastic leukaemia in first chemotherapy induced remission and for those with chronic myelogenous leukaemia in the chronic phase since approximately 50-60 per cent of these patients are surviving after marrow transplantation in complete remission, apparently cured. Marrow grafting is the only effective treatment for many patients with inherited immunological-deficiency diseases and certain genetic storage diseases. It is being explored for the therapy of patients with lymphoma, Hodgkin's disease, multiple myeloma, small-cell lung cancer, testicular cancer, ovarian cancer and genetic disorders of haematopoiesis. Cures of congenital Fanconi anaemia, Blackfan-Diamond anaemia, osteopetrosis, and paroxysmal nocturnal haemoglobinuria have been achieved by marrow grafting. Genetic disorders associated with haemolytic anaemia and cyclic neutropenia have been cured by marrow grafting in animals. Target disorders for marrow transplantation in humans are thalassaemia major and sickle cell disease, and, indeed, a first successful transplant for treatment of thalassaemia major has recently been described (Thomas et al, 1982). Marrow transplantation has been limited by the fact that many patients do not have HLA-identical siblings and very few have monozygotic twins. The Seattle team has now explored the use of less well-matched family member donors in more than 80 patients with leukaemia. These donors share one HLA haplotype genetically with the patient and are phenotypically identical at two of the three major HLA loci on the other HLA haplotype (Clift et al, 1979). Overall, the post-transplant survival appears more a reflection of the type and stage of the leukaemia than of the marrow donor. Patients with leukaemia grafted in relapse have a projected survival of 20-30 per cent and those transplanted in remission of 50 per cent. The incidence and severity of GVHD may not be significantly different from that of patients given HLA-identical sibling marrow grafts.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Application of bone marrow transplantation in leukaemia and aplastic anaemia. 635 79

A 50-year-old female, heterozygous for beta-thalassaemia was found to have a lytic lesion surrounded by osteosclerotic tissue in the 1st lumbar vertebra. Aspiration of the lesion showed 100% atypical plasma cells. The bone marrow contained 17% myeloma cells. Despite normal electrophoresis and immunoelectrophoresis of serum and urine, 'rouleaux' formation was pronounced. Treatment of the serum sample with 2-mercaptoethanol and heat (56 degrees C) disclosed an uncommon pyroglobulin. Analysis of the ammonium sulphate precipitate of the serum by sodium-dodecyl-sulphate polyacrylamide gel electrophoresis revealed a 43 kD component with higher anodic mobility than normal gamma chains. Ultrafiltration column chromatography of the serum revealed a narrow spike of approximately 4 S that contained gamma heavy chain antigenic determinants in addition to normal 7 S IgG.
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PMID:'Incomplete' pyroglobulin-gamma disease in a patient with osteosclerotic myeloma. 643 94

Four cases of endometrial extramedullary haemopoiesis are reported, all with associated haematological disease. The diagnoses of a myeloproliferative disorder and thalassaemia trait were made as a consequence of the histological observations and subsequent haematological investigations in two cases. The third case occurred in a patient with an established diagnosis of chronic myeloid leukaemia. The diagnosis of extramedullary haemopoiesis in the final case was made on autopsy material from a patient with multiple myeloma. The endometrium from five other women with known myelofibrosis was examined but extramedullary haemopoiesis was not found. Endometrium from 32 fetuses did not contain haemopoietic elements, excluding the likelihood of the endometrium being a common site for extramedullary haemopoiesis in development. Endometrial extramedullary haemopoiesis is an uncommon finding, but it is worthy of note, as it may herald the presence of an underlying haematological abnormality.
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PMID:Endometrial extramedullary haemopoiesis. 761 62

Uric acid is the end-product of purine nucleotide metabolism in man. The renal handling of urate is a complicated process, resulting in a fractional clearance of 8.2-10.3%. The anhydrous form is thermodynamically the most stable uric acid crystal. Uric acid is a weak acid that ionizes with a Pka at pH 5.75. At the normal acidic region, uric acid solubility is strongly increased by urinary pH. The prevalence of uric acid stones varies between countries, reflecting climatic, dietary, and ethnical differences, ranging from 2.1% (in Texas) to 37.7% (in Iran). The risk for uric acid stone formation correlates with the degree of uric acid supersaturation in the urine, depending on uric acid concentration and urinary pH. Hyperuricosuria is the major risk factor, the most common cause being increased purine intake in the diet. Acquired and hereditary diseases accompanied by hyperuricosuria and stone disease include: gout, in strong correlation with the amount of uric acid excreted, myelo- and lymphoproliferative disorders, multiple myeloma, secondary polycythemia, pernicious anemia and hemolytic disorders, hemoglobinopathies and thalassemia, the complete or partial deficiency of HGPRT, superactivity of PRPP synthetase, and hereditary renal hypouricemia. A common denominator in patients with idiopathic and gouty stone formers is a low urinary pH. Uric acid nephrolithiasis is indicated in the presence of a radiolucent stone, a persistent undue urine acidity and uric acid crystals in fresh urine samples. A radiolucent stone in combination with normal or acidic pH should raise the possibility of urate stones.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Uric acid nephrolithiasis. 778 6

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

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


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