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)

Using a method involving elution of hemoglobin bands from cellulose acetate strips following electrophoresis of hemolysates, hemoglobin A2 (Ab A2) was quantitated in bloods from 300 healthy individuals and 904 patients. The percentage of Hb A2 was elevated in beta-thalassemia heterozygotes and some patients who had megaloblastic anemia. In the latter, the highest Hb A2 levels were observed in patients with the most severe anemia. Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia. Iron and folate deficiency each suppressed Hb A2 levels in beta-thalassemia heterozygotes; however, vitamin B12 deficiency did not alter the percentage of Hb A2 in thalassemia. Malignant tumors, renal and hepatic insufficiency, chronic infections and inflammation, hemolytic disease, lead poisoning, aplastic anemia, leukemia, myelofibrosis, and hypothyroidism did not change Hb A2 levels. The pathogenesis of altered Hb A2 levels and their clinical significance in various diseases are discussed.
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PMID:Hemoglobin A2 levels in health and various hematologic disorders. 26 35

The incorporation of [15N]delta-aminolaevulinic acid and [15N glycine into haemoglobin haem and early labelled bilirubin was measured in subjects with various haematological disorders. The clearance of [14C bilirubin was used to measure bilirubin production rate, and the magnitude of the various sources of bilirubin production and the percentage ineffective erythropoiesis were calculated. Ineffective erythropoiesis was found to be a major factor in the production of the anaemia in patients with the following disorders: megaloblastic anaemia associated with the Lesch-Nyhan syndrome, thalassaemia intermedia, sideroblastic anaemia, and the anaemia of chronic disorders. In three patients with iron-deficiency anaemia ineffective erythropoiesis was increased, but was of minor importance in the production of the anaemia, while in two patients with aplastic anaemia and one with macrocytosis of alcoholism there was no increase in ineffective erythropoiesis.
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PMID:Quantitation of ineffective erythropoiesis from the incorporation of [15N] delta-aminolaevulinic acid and [15N] glycin into early labelled bilirubin. II. Anaemic patients. 95 67

Over the past 20 years allogeneic bone marrow transplantation has been increasingly utilized in the treatment of acute and chronic leukemias, aplastic anemia, severe forms of thalassemia, immunodeficiency syndromes and metabolic disorders due to a lack of specific enzymes in the monocyte-macrophage system. Despite the overall success of this approach and besides the so-called classic complications arising from the toxicity of the conditioning regimen, occurrence of GVH disease and interstitial pneumonitis, there are other less common complications which have been reported mainly by teams transplanting on a large number of patients. With only a limited experience, concerning 60 patients with transplants between May 1987 and May 1991, we have seen some unusual complications such as toxoplasma encephalitis, myasthenia gravis and aseptic bone necrosis, which may give rise to difficult diagnostic and therapeutic decisions.
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PMID:[Unusual complications of bone marrow transplantation. Experience at the BMT Unit of the Francisco Gentil Portuguese Institute of Oncology, Lisbon Center]. 180 30

During 1990 143 teams in 20 European countries performed a total of 4234 bone marrow transplants. Donor source was in 1802 cases an HLA-identical family donor, in 118 cases a non-identical family donor, in 36 cases a twin donor, in 181 an unrelated volunteer donor and in 2097 cases autologous bone marrow. Indications for the transplant were leukaemias in 2365 patients, lymphoproliferative disorders in 1104 patients, solid tumours in 382 patients, aplastic anaemia and thalassaemia in 281 patients, inborn errors in 58 patients and miscellaneous disorders in 44 patients. This survey of the European Group for Bone Marrow Transplantation on transplant activity clearly indicates that within the last decade bone marrow transplantation has become an established therapy in Europe. The results of this first complete survey provide a basis for planning therapeutic trials and health policy strategies.
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PMID:Bone marrow transplantation activity in Europe 1990. European Group for Bone Marrow Transplantation (EBMT) 151 Dec 60

We review the first 100 patients receiving a bone marrow transplant as definitive therapy for their underlying disease. These patients were treated between May 1975 and June 1988. Median age was 8 years (range, 1 month to 43 years). Initially, patients were given transplants late in their disease but, as the programme progressed, patients were given transplants earlier and while in remission from their disease. The types of disease considered for treatment by bone marrow transplantation (BMT) expanded from leukaemia, and aplastic anaemia to include neuroblastoma, thalassaemia and immune deficiency. Initially matched donors were used but the source of marrow broadened to include mismatched family members, matched unrelated donors and autologous marrow. Problems after BMT were rejection (11%), acute graft-versus-host disease (GVHD) (45%), interstitial pneumonitis (22%) and relapse (36%). Recurrence of disease was the cause of half the deaths. GVHD was less frequent with the use of methotrexate and cyclosporin, T-cell depleted marrow or matched donors. Interstitial pneumonitis was more commonly associated with the use of mismatched donors and the development of GHVD. Relapse was less likely when BMT was undertaken in the first remission. At least one long-term side effect was seen in all patients treated with total body irradiation whereas no patient treated without irradiation had long-term side effects. The rate of disease free survival of patients at 24 months was 56% for matched, 48% for closely matched, 46% for autologous and 29% for mismatched transplants. For matched transplants mortality within the first 6 months after transplantation decreased from 28% before 1984 to 5% since 1984. Fifty-one patients have survived to June 1989, 49 of them disease free, for periods ranging from 12 to 123 months (median 29 months).
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PMID:Bone marrow transplantation: a review of a programme and its first 100 patients. 223 31

Forty-three patients with hematopoietic disease were treated with intensive chemotherapy and radiotherapy, followed by allogeneic bone marrow transplantation (BMT) from 28 HLA-identical and 10 one to two antigen haploidentical sibling donors and autologous BMT (5 cases). Of these cases, there were 21 with acute nonlymphocytic leukemia (ANLL), 5 with acute lymphocytic leukemia (ALL), 6 with chronic myelocytic leukemia (CML), 2 with Hodgkin's disease (HD), 8 with severe-form aplastic anemia (SAA) and 1 with thalassemia. Complications of BMT were evaluated including acute graft-versus-host disease (GVHD), interstitial pneumonia (IP), veno-occlusive liver disease (VOD), abnormalities of liver function (LF), and alteration of hepatitis B virus (HBV) markers. In thirty-three patients who were followed up for more than 3 months, we found that the incidence of moderate to severe acute GVHD (9.1%) and IP (two cases, 4.7%) were low. No VOD occurred in our series. During the follow-up period, 27 out of 35 patients (77%) had high alanine aminotransferase (ALT)/aspartate aminotransferase (AST) levels, even up to 1000 U/liter; however, only one patient succumbed to a hepatitis-related complication. Previous hepatic damage from HBV infection before BMT does not appear to increase the risk of posttransplant morbidity and mortality.
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PMID:Complications of bone marrow transplantation in Chinese. 232 72

A rapid and inexpensive method is described for the enrichment of fetal hemoglobin (HbF) which eliminates the interference of other hemoglobins in the HPLC analysis of gamma chains when HbF is less than or equal to 20-30% of the total Hb. The enrichment procedure, which is carried out on 1 ml hemolysate, is based on the alkaline denaturation of the other Hbs followed by Zn2+ precipitation. Samples are injected into the HPLC apparatus without further treatment. The method was validated by HPLC analysis of hemolysates with high levels of HbF and mixtures prepared by diluting the high HbF hemolysates with adult hemolysates. The relative proportions of gamma chains as well as their chromatographic behavior were unaltered by the HbF enrichment procedure. The method is illustrated by the analysis of hemolysates of normal newborns and of patients with thalassemia, sickle cell diseases and aplastic anemia containing 3.4 to 100% HbF. For the four hemolysates containing greater than 20% HbF, the same quantitative and chromatographic results were obtained by direct analysis and after enrichment. Although reproducible and accurate results were obtained for the enrichment method and HPLC analysis when HbF was greater than or equal to 3%, at lower concentrations the variability of both was unacceptably high, indicating the need for additional or improved methodology for hemolysates containing very low levels of HbF.
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PMID:An HbF enrichment procedure for the HPLC analysis of gamma chains. 240 92

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

Renal lesions found in 21 autopsied patients with hemosiderosis, 18 with beta-thalassemia, two with Blackfan-Diamond anemia, and one with aplastic anemia included: cellular glomeruli with increased mesangial matrix; hemosiderin deposit in visceral and parietal glomerular epithelial cells; greater hemosiderin deposit in terminal straight portions of proximal convoluted tubules and distal convoluted tubules than in connecting segments, or collecting tubules, connective tissue ferrugination; lipofuscin in tubular epithelium and vascular smooth muscle; infrequently, intimal or medial arterial thickening, and, in one patient with thalassemia, an infarct resulting from arterial thrombus. The progression of these lesions over the course of disease, and possible effects on the various lesions of high transfusion regimen, oral pancreatin, vitamin E supplementation, or treatment with intramuscular, subcutaneous, or intravenous desferrioxamine were evaluated. The results of urine and renal function studies of 4 of the autopsied patients (3 thalassemia, 1 Blackfan-Diamond anemia), and 14 patients with thalassemia and 4 with Blackfan-Diamond anemia who were not autopsied, are presented. Rarely significant until preterminal stages, the renal functional changes reflect distal more than proximal tubule dysfunction.
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PMID:Renal lesions and clinical findings in thalassemia major and other chronic anemias with hemosiderosis. 201 91

Blood, pH and bicarbonate were examined in 40 normal subjects and in 53 patients with anemia. Included were 28 patients with thalassemia, 18 with aplastic anemia and seven with iron deficiency anemia. Mean increases in pH of 0-0.04 and decreases in HCO3 of 2.3-3.5 mEq/L were observed. Changes were not significantly affected by the degree of erythropoiesis or by the severity of the anemia and were essentially the same in the three groups of patients studied. Typical changes of a mild, uncompensated alkalosis were also produced on four occasions in one transfused thalassemic patient.
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PMID:A mild uncompensated alkalosis in anemia. 312 64


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