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 Brazil, clinicians followed 32 transfusion-dependent beta-thalassemia patients, 1-49 years old, at the Regional Blood Center and the Department of Hematology of University Hospital of the School of Medicine of Ribeirao Preto to determine the prevalence of hepatitis B virus (HBV), hepatitis C virus (HCV), HIV-1, and HTLV-1. They also measured serum levels of ferritin and alanine aspartate transaminase (ALAT) to examine liver iron content and liver damage, respectively. 46.8% tested positive for antibodies to HCV, which was much higher than that of voluntary blood donors of the Regional Blood Center (1.4%) or of other countries. Yet it was about the same as that of multitransfused patients in the UK (23.2%), Italy (92.9%), and Saudi Arabia (33.3%). 3 of these 15 patients also tested positive for HBV markers. 15.5% tested positive only for HBV markers. 37.5% had no hepatitis markers. Hepatitis-positive people were older than those who tested negative for hepatitis (15.2 years vs. 8.5 years; p .05). The number of units of blood transfused and the levels of ferritin and ALAT were not statistically different between the 2 groups (192.1-336 vs. 135.2 and 36.6-52.3 U/l vs. 36.7 U/l, respectively). 75% of the HCV positive patients received more than 100 units of packed red blood cells while only 42% did in the HCV negative group. 2 people tested positive for HIV-1 1 of whom also tested positive for anti-HBs-Ag and the other for HCV antibodies. The HIV-1 cases had become infected before the blood bank began screening for HIV-1 in 1987. None of the patients receiving blood from the center became infected with HIV-1, yet 60% of hemophiliacs treated at the hospital were HIV-1 infected. No one tested positive for HTLV-1, even though all 32 patients had received more than 6250 units of blood not screened for HTLV-1. This reflected the low incidence of HTLV-1 in the general population (0.05%). No one was positive for HBs-Ag or HBe-Ag.
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PMID:The frequency of blood-born viral infections in a population of multitransfused Brazilian patients. 827 57

We observed increased hemoglobin A2 (HbA2) levels in an asymptomatic human immunodeficiency virus-1 (HIV1) patient with no previous history of beta-thalassemia. He was treated only with zidovudine (AZT). In an attempt to understand this observation, a retrospective study was initiated to determine whether mean HbA2 levels are higher in AZT-treated patients than in subjects not receiving this drug and to assess if other hematologic alterations are associated with elevated HbA2. One hundred fifty-one HIV-positive cases were investigated; AZT was administered to 81 of them. The mean value of HbA2 was 0.032 (SD +/- 0.005) for the treated group vs. 0.027 (SD +/- 0.004) for the controls. This difference was highly significant (P < 0.001). Twenty-four patients (31%) in the treated group had elevated HbA2 levels vs. none in the controls. Bone marrow toxicity seemed to be more significant in patients with heightened HbA2 values, and HbA2 levels did not increase with CDC clinical stage. We conclude that AZT may be linked to high HbA2 levels in some patients.
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PMID:Increase of hemoglobin A2 in human immunodeficiency virus-1-infected patients treated with zidovudine. 834 56

One of the most important 'antibodies' that nature has developed for malarial parasites can be used for treating cancer as well as diseases like AIDS. The globins and their derivatives of abnormal red blood cells (sickle cells and thalassemia), have evolved as a selective resistance to malarial infections. Plasmodium species of sporozoa, which parasitize red blood cells and proliferate at their cost are inhibited by these abnormal red blood cells. To test the validity of this hypothesis, the author carried out a preliminary Medline search from 1974 to 1991 to find out if persons suffering from sickle cell or thalassemia diseases are 'immune' to HIV infections and malignancies. Clinical investigations lend support to the hypothesis. A research scheme is suggested for the study of the role of these globulin derivatives as they effect the synthesis of genetic material related to cell proliferation.
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PMID:Potential use of globins and their derivatives of abnormal red blood cells in the treatment of cancer and related immune disorders. 837 69

Our purpose is to illustrate our contributions to the study of the haemoglobinopathies observed in Belgium. We described a new deletion leading to major thalassaemia and have established that the erythropoietin production is adequate in this disease. We were particularly interested in some manifestations of iron overload (polyendocrinopathy, roles of the decreased phagocytosis and of the desferrioxamine therapy in the predisposition to infections, protective role of desferrioxamine in the protection against the progression of HIV-1 infection). The prevention of thalassaemia major has deserved our particular attention. As concerns sickle cell anemia, we have underlined some particular aspects of the clinical expression of the disease. The use of new therapeutic approaches (bone marrow transplantation, hydroxyurea) has also been outlined.
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PMID:[Study of hemoglobinopathies found in Belgium]. 884 87

Adeno-associated virus (AAV) is a single-stranded DNA dependovirus of the family of Parvoviridae that has promising features as a vector for somatic gene therapy. Different recombinant (r) AAV vectors have been generated that seem to have some advantages compared with other vector systems, such as the transduction of terminally differentiated and non-dividing cells, the lack of any apparent pathogenicity, low immunogenicity, relatively high stability of transgene expression, and the potential of targeted integration. Recent improvements in rAAV packaging should allow the generation of sufficient quantities of rAAV for clinical trials. Preclinical studies with rAAV are currently being performed for the treatment of a variety of inherited monogenic defects, such as beta-thalassemia, sickle cell anemia. Fanconi anemia, chronic granulomatous disease, Gaucher disease, metachromatic leukodystrophy and cystic fibrosis, and of acquired diseases, such as HIV infection and non-Hodgkin lymphoma. The diversity of these studies indicates that rAAV might have a broad range of clinical applications. A first clinical trial with rAAV vectors has been started for cystic fibrosis. While several important issues, including safety, tissue tropism and methods to achieve site-specific integration, need further clarification, rAAV seems to have a sufficient number of advantages to be seriously considered as a future gene therapy vector.
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PMID:Recombinant adeno-associated virus (rAAV) vectors for somatic gene therapy: recent advances and potential clinical applications. 938 91

A review of the literature during the past year on rheumatic manifestations in hematologic diseases supports the idea that 80% of the hemorrhage in hemophilia occurs within the joints, with knees, elbows, and ankles being the most affected joints in adults. In contrast, the ankle is the target joint in children. Septic arthritis in hemophilic patients is becoming more important due to the advent of HIV infection. Radioactive synoviorthesis in hemarthrosis has the same rate of success as surgical synovectomy, but with far lower costs. A new study documents the association of arthritis and vasculitis in patients with myelodysplasic syndromes and lymphoproliferative disorders. An increased incidence of scoliosis in patients with beta-thalassemia has been noted. Finally, the effects of bone marrow transplantation in patients with previous autoimmune diseases is reviewed. Progression of rheumatoid arthritis after bone marrow transplantation is documented in a patient with 13 years of follow-up. Hematologic disorders in rheumatic diseases are not the topic of this review.
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PMID:Rheumatic manifestations of hematologic disorders. 944 95

A total of 39 patients with thalassaemia major who received multiple blood transfusions were followed up clinically and serologically for 3 successive years (1993, 1994, 1995). They were screened for hepatitis B surface antigen (HBsAg), and antibodies to hepatitis B core (HBc-total), hepatitis C virus (HCV), human immunodeficiency virus I and II (HIV-I/II) and cytomegalovirus (CMV-total). In spite of transfusing HBsAg screened (by third generation ELISA) blood from voluntary non-remunerated donors, there was a significant increase of HBsAg positivity (P < 0.001) from 17.9 per cent (1993) to 35.9 per cent (1994) to 69.2 per cent (1995). This was probably due to the prevalence of undetectable HBV infection in the population. Anti HBc was present in 17 (43.6%), 14 (35.9%) and 16 (41%) patients in consecutive years. An increase in the units of blood transfused was observed every year. Blood units were not screened for anti HCV antibodies but a gradual increase in positivity [9 (23%), 12 (30.7%) and 14 (35.9%) patients] was seen in consecutive years. Anti-HIV antibodies were found in a 16 yr old male who was included in the study without any clinical evidence of AIDS. Anti CMV antibody was found in 30 (76.9%), 32 (82%) and 29 (74.3%) patients without any apparent clinical infection. Some patients showed change of antibody pattern (from negative to positive or vice versa) and a few patients showed inconsistent results probably due to immune modulation. Recruitment of 'repeat' non-remunerated voluntary blood donors may reduce the risk of high HBV transmission.
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PMID:Serological monitoring of thalassaemia major patients for transfusion associated viral infections. 970 94

We evaluated 81 thalassaemia major and 4 thalassaemia intermedia patients (48 M, 37 F), median age 17 years; 62/85 patients were HCV-positive, 3/85 HIV-positive, 19/85 were splenectomized. Forty normal healthy children were recruited as the control group. The number of thrombotic events was studied retrospectively. Platelet poor plasma was filtered and quick-frozen at -70 degrees C until time of assay. APC resistance was measured in an activated thromboplastin time and results were expressed as normalized ratio. All tests were done with diluted 1 in 5 (v/v) factor V deficient plasma and with undiluted plasma. Molecular genetic investigation of factor V gene was performed with polymerase chain reaction, followed by digestion of amplified products with restriction enzyme Mnl I. Data obtained with molecular investigation revealed the presence of 4 heterozygous subjects for factor V Leiden (4.7%). Functional tests were able to detect all heterozygotes for factor V Leiden both with undiluted and with diluted plasma, and there were no false negative subjects. However, undiluted plasma revealed a greater number of false positive subjects (n=15) than did diluted plasma. Therefore, tests done with undiluted and diluted plasma revealed a 100% sensitivity, while specificity was 81% for undiluted plasma and 97% for diluted plasma. Only one thrombotic event was observed in one of the 85 studied patients, as a case of stroke in a thalassaemia intermedia patient with APC resistance. In the same patient an additional thrombogenic risk factor was represented by a pronounced haematocrit increase at the beginning of her transfusion regimen.
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PMID:Resistance to activated protein C in thalassaemic patients: an underlying cause of thrombosis. 971 25

Recent evidence indicates that the rate of progression of the HIV-1 disease is significantly reduced in thalassaemia major patients upon treatment with high doses of desferrioxamine (DFX). The authors have previously demonstrated that in vitro exposure of mononuclear cells to DFX decreases the bioavailability of tumour necrosis factor alpha (TNF-alpha) which has a stimulatory effect on HIV-1 replication. In this study, therefore, TNF-alpha bioavailability from mononuclear cells isolated from 10 patients with thalassaemia or sickle cell anaemia given DFX as compared to 10 untreated subjects has been evaluated. Evidence is presented showing that DFX treatment reduces TNF-alpha bioavailability (P<0.05) by inhibiting its steady state (P<0.05) and by enhancing its inactivation through binding to soluble TNF-alpha receptor type II (P<0.05). We also show that DFX treatment limits the in vivo activation of NF-kappaB, a transcription factor involved in both TNF-alpha gene transcription and TNF-alpha signalling (P<0.005). We conclude that TNF-alpha bioavailability and signalling are impaired in patients upon DFX treatment. This mechanism may contribute to delayed progression of the HIV-1 infection in vivo.
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PMID:Reduction of tumour necrosis factor alpha expression and signalling in peripheral blood mononuclear cells from patients with thalassaemia or sickle cell anaemia upon treatment with desferrioxamine. 1008 40

Thalassaemia patients receiving repeated blood transfusions are vulnerable to transfusion related infections. HIV infection is the most life threatening of them all. Blood being the most efficient mode of transmission of HIV, increases the risk of infection even further. Although the National AIDS Control programme has laid down stringent rules regarding blood safety, it remained to be seen whether they were being followed meticulously especially in rural areas. The present study was conducted to identify the HIV status of multi-transfused thalassaemia patients attending hospital blood banks of rural Bengal. Only 3 (0.9%) of the 330 thalassaemia patients examined were found to be HIV positive. Although the situation has not reached alarming proportions, yet appropriate control measures must be adopted on a mass scale to prevent further spread of the world wide pandemic.
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PMID:Dr. P. C. Sen Memorial Award Paper. A study of HIV infection in thalassaemia patients of rural Bengal. 1038 18


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