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)

Despite genetic differences, patients with S-beta zero thalassemia or sickle cell anemia present several clinical and hematological similarities. In this study we present evidence that they can also show similar immunological profiles. Both hemoglobinopathies exhibited increased total lymphocyte counts as well as B, CD4 and CD8 lymphocyte subset counts. The CD4/CD8 ratio and the determination of the activity of antibody-dependent cellular cytotoxicity were within the normal range for patients with both diseases. The levels of IgG and IgA were also increased for both conditions, but the amount of factor B of the complement system was elevated only in sickle cell anemia patients.
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PMID:Immunological studies in sickle cell-beta zero thalassemia. Comparison with sickle cell anemia. 262 34

We investigated the incidence, clinical and immunological characteristics of human immuno-deficiency virus (HIV) infection in a group of multi-transfused patients with thalassaemia major who were exposed to transfusion-associated HIV infection. Seropositivity to HIV by Western blot and immunofluorescence analysis was detected in 26 out of 590 patients. At a follow up 21-40 months later, none of these seropositive patients had developed acquired immuno-deficiency syndrome (AIDS), and six manifested the AIDS related complex (ARC). ARC was unusually mild and consisted of moderate laterocervical and submandibular lymph node enlargement associated with hypergammaglobulinaemia and a reduced CD4/CD8 ratio resulting from the decreased number of CD4 lymphocytes. These findings suggest that multi-transfused patients with thalassaemia major are relatively resistant to the development of severe manifestations of HIV infection, presumably because their immune status is relatively better preserved than that of other infected populations. Longer follow up is, however, necessary to determine whether the incidence of AIDS will be lower in this population or whether overt AIDS merely takes longer to develop.
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PMID:Human immunodeficiency virus infection in multi-transfused patients with thalassaemia major. 339 Dec 24

Two hundred and three multi-transfused children with thalassemia attending the Thalassemia Clinic of the Charak Palika Hospital, New Delhi were screened for human immunodeficiency virus (HIV) antibodies by ELISA and all positive cases were confirmed by Western Blot. Of the 203 children screened, 18 (8.9%) were HIV positive, and in these children a detailed immunological work up was done and compared to 18 age-matched HIV negative thalassemics as controls. The tests included absolute lymphocyte counts (ALC), absolute and percentages of CD4+ and CD8+ cells and their ratios (CD4/CD8), immunoglobulin levels (IgG, IgM and IgA) and delayed cutaneous hypersensitivity (DCH) test by Multitest CMI in all the cases and the controls. Of the 18 HIV positive children, 6 were diagnosed to have clinical AIDS as per the WHO criteria. After immunological testing, the children were further classified according to the CDC criteria. By these criteria, 11 children were classified as P1 A (asymptomatic infection, normal immune function), 1 child as P1 B (asymptomatic infection, abnormal immune function), 2 children as P2 A (symptomatic infection with non-specific findings), 1 child as P2 C (lymphocytic interstitial pneumonitis), 1 child as P2 D1 (Pneumocystis carinii pneumonia) and 2 children as P2 D2 (symptomatic infection with infections). In this paper, the clinical features of the children with AIDS is described, and the immunologic functions of these children are compared with the HIV positive asymptomatic children and with controls. These are the first cases of AIDS in the pediatric age group from India.
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PMID:Acquired immunodeficiency syndrome (AIDS) in multitransfused children with thalassemia. 828 25

Hepatitis C virus (HCV) is responsible for the majority of cases of post transfusion non-A non-B (NANB) hepatitis in thalassaemia major (TM). Fifteen multi-transfused TM patients with serological, biochemical, histological and molecular biological evidence of HCV infection have been treated for six months with recombinant alpha interferon (IFN). Eleven (73%) responded, 8 (53%) had complete response (CR), 3 (20%) partial response (PR) and 4 (27%) did not respond (NR) to IFN. Natural killer (NK) cell activity 24 hours after the first dose of IFN was significantly increased in responders as compared to non-responders. Liver histology showed an overall reduction of portal inflammation and periportal necrosis in the responding patients. HCV RNA disappeared from serum in 8 (15) responders and partial responders. Non responders remained positive. HCV RNA was tested and found to be positive in liver tissue material in 7 patients, five of those were re-tested after IFN treatment. Two became negative (both CR) 3 remained positive despite biochemical response to IFN. The degree of induction of peripheral blood mononuclear cell 2'5' oligoadenylate synthetase messenger RNA (2-5 OAS mRNA), an enzyme induced by IFN, after the first dose of IFN did not correlate with response neither was any significant interaction with cytokines observed; tumour necrosis factor (TNF), interleukin-1. (IL-1) and CD4:CD8 ratios did not change. We conclude that IFN should be given to all TM patients with chronic active hepatitis due to HCV.
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PMID:Recombinant alpha 2B interferon (IFN) in the treatment of chronic hepatitis C disease in thalassaemia major (TM). 839 33

Lymphocyte subpopulations and proliferative responses to mitogens of 24 beta-thalassemia/HbE patients were studied and compared with those of 23 healthy controls. Results of the study were analyzed in correlation with clinical aspects i.e. severity of disease (anemia), frequency of infections and iron status. T(CD3+) lymphocytes were found to increase in thalassemic patients compared to normal controls. The CD4+ or CD8-positive lymphocytes and CD4/CD8 ratio were not statistically different from normals. Without mitogen, lymphocytes from thalassemic patients incorporated more [3H]Tdr than those from normal controls. Stimulation index (SI) of these cells after various mitogens were lower than in normal subjects. The observations were more obvious in patients with severe disease (severe anemia) and those who had frequent infections. These findings suggest that lymphocytes from thalassemic patients are activated in vivo. Whether these cells are less efficient in response to new or previously unexposed antigens remains to be proven.
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PMID:Lymphocytes in beta-thalassemia/HbE: subpopulations and mitogen responses. 859 34

Infection is very common in thalassemia and is one of the major causes of death. To date, it is not quite clear why these patients are susceptible to infection. In this study, lymphocyte immunophenotyping for CD3(+) (T-cells), CD3(+)CD4(+) (T-helper/inducer cells), CD3(+)CD8(+) (T-suppressor/cytotoxic cells), CD3(-)CD19(+) (B-cells), and CD3(-)CD16/56(+) (natural killer cells) subsets and expression of the activation antigen CD69 on CD3(+)CD4(+) and CD3(+)CD8(+) T-cells were determined in the whole blood of thalassemia patients, using a three-color flow cytometric technique. Results showed that only splenectomized beta-thalassemia/hemoglobin (Hb) E patients displayed a marked increase in absolute number of all lymphocytes. In addition, splenectomized beta-thalassemia/Hb E showed a significantly lower percentage of CD3(+) cells, with a corresponding increase in CD19(+) cells. These differences, when compared with normal subjects and other thalassemia patients, may be attributed to splenectomy. alpha-thalassemia patients, on the other hand, showed no significant difference from the normal group. While lymphocyte subsets in splenectomized beta-thalassemia/Hb E patients showed an abnormal distribution, T-cell activation in these patients was not different from the activation seen in normal subjects. This implies that thalassemia patients, during the steady state of disease, appear to have normal T-lymphocyte function with only moderate abnormalities of T- and B-lymphocyte subsets.
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PMID:Lymphocyte subsets and specific T-cell immune response in thalassemia. 1067 38

Pulmonary dysfunction represents one of the least studied complications in thalassemic patients. Probably, it is due to the absence of pulmonary symptoms. There are few works in the literature, and contradictory results have been published. The aim of this study was to define the spirometric pattern and the possible causes of lung impairment by testing bronchoalveolar lavage (BAL) with pathological pulmonary function tests (PFTs). Furthermore, diffusion capacity tests for carbon monoxide corrected for hemoglobin value (Dco*) were performed. We studied 48 thalassemic patients (27 F and 21 M), with an age range from 8 to 23 years, divided into two groups on the basis of PFTs results. Thus, group A was formed by 16 patients with restrictive spirometric patterns of whom 14 had also reduced Dco* values and group B consisted of 32 patients with normal PFTs and Dco* values. Patients of group A underwent chest high-resolution computing tomography (CHRCT) and BAL whose fluid was analyzed by microbiologic and cytological assays. A pathological CHRCT picture was present in 8 patients. Nine out of 16 patients who accepted to undergo BAL had a chronological age greater than 17 years with a mean bone age of 13.9 years. BAL results showed lymphocyte alveolitis in 6 patients and a normal cytogram in 3, while alveolar iron-laden macrophages were present in 4 out of 6 patients with alveolitis and 2 out of 3 patients with normal cytogram. Moreover, all examined BAL fluids showed a normal CD4/CD8 ratio, while only 2 patients showed an altered serum CD4/CD8 ratio. We demonstrated the presence of (1) lung-restrictive syndrome in 16 of the oldest thalassemic patients; (2) lymphocyte alveolitis in 6 patients, and (3) a picture of interstitial fibrosis by CHRCT in 8 of them. All these data are suggestive of a diagnosis of interstitial lung disease secondary to thalassemia. BAL helped to identify the presence of alveolar iron-laden macrophages that represented a local defense mechanism against free iron. This latter finding therefore might be the primary cause of the lung impairment promoting an oxidative damage. Further studies are needed to investigate this hypothesis and therapeutical potentials.
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PMID:Evidence of lymphocyte alveolitis by bronchoalveolar lavage in thalassemic patients with pulmonary dysfunction. 1083 52

Increased susceptibility to infectious disease is observed in persons with transfusion-dependent thalassemia and iron overload who experience increased exposure to pathogens and chronic immune stimulation. An abnormal low CD8(+) T (LT8) immune phenotype defines a subgroup of patients. The CD8(+) T cell immunophenotype is stable despite continued blood transfusion and is independent of age. CD8(+) T cells, but not CD4(+) T cells, were modulated during intravenous chelation with deferoxamine. Return to characteristic pretreatment levels of CD8 was observed in both the low and the normal groups, suggesting the possibility of a set point. Proliferative response to mitogens and antigens was increased by chelation. Because CD8(+) T cells are important in immune response to infectious disease, these studies suggest that intrinsic CD8(+) T cell subset differences may be a critical factor in determining susceptibility to infection independent of transfusional iron overload or alloantigen exposure.
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PMID:Effect of transfusional iron overload on immune response. 1094 93

Nutritional deficiencies have been variably observed in thalassaemia and the aetiology of many of the immune abnormalities in thalassaemic children are poorly defined. Therefore, we tested the hypothesis that certain immune abnormalities have a nutritional basis. Nutritional status, selective quantitative and functional indices of immunity were studied in twelve children (7 females, 5 males; mean age 28 months, SD 5 and range 19.8-35.5), with thalassaemia major before and after a one month period of intensive nutrition support (the study diet consisted of 'Enfapro' liquid formula (Mead Johnson) with added dextrose and corn oil to achieve a caloric density of 1.1 kcal/cc in addition to vitamins and minerals). Each child was provided approximately 150 kcal/day and 4 g of protein/day. Lymphocyte proliferation to Concanavalin A (Con A) (P = 0.008) and Purified Protein Derivative (PPD) (P = 0.002) was depressed upon entry into the study, however the response to Con A attained normal values by the end of the intervention. Compared to baselines, the proliferative response to Con A (P = 0.005) and Phytohemagglutinin A (PHA) (P = 0.031) both improved after the nutrition support. Although there was no general correlation of zinc status with lymphocyte proliferation, normal baseline zinc status was associated with improvement of proliferation. The %CD4 increased (P = 0.036), primarily because of a decrease in total lymphocytes and to lesser extent a decrease in CD8 lymphocytes. Serum immunoglobulin concentrations were found to be elevated on admission but were not significantly affected by the nutrition intervention. C3 concentrations were uniformly depressed on admission but increased by the end of the study protocol (P = 0.037). C4 and CH50 activity were not significantly influenced by the intervention. In conclusion, children with beta thalassaemia have abnormalities of lymphocyte function as well as key complement components that are responsive to nutrition support. In addition, zinc status appears to have an important role in lymphocyte function in these children.
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PMID:Effect of nutrition support on immunity in paediatric patients with beta-thalassaemia major. 1273 12

Hemoglobinopathies are the most commonly inherited genetic disorders in India. Certain communities in India have a high predisposition to beta-thalassemia. To offer prenatal diagnosis and to prevent the birth of an affected child, mutation testing in clinically diagnosed beta-thalassemia patients/carriers is a prerequisite. Over a period of 4 years, we have conducted DNA analysis in 385 carriers for 15 beta-thalassemia mutations, HbD, HbE, and HbS. Using reverse dot blot (RDB) and amplification refractory mutation system (ARMS), we have been able to identify mutations in 381 of 385 thalassemia chromosomes. The study included the analysis of five common mutations found in Asian Indians, namely IVS1-5 (G-C), 619-bp deletion, IVS1-1 (G-T), and the frameshifts at CD8/9(+G) and CD41/42(-CTTT). The occurrence of these five mutations was seen in 299 (91.2%) carriers referred to us, the percentage of mutations varying between 4.0 and 68.9%. We also found Cd16 (-C) in 2.1%, CD30 (G-C) in 1.5%, and CD 15(G-A) in 0.6%; these are considered common mutations in the Indian population, as well. The beta-thalassemia anomaly in 4 (0.6%) carriers remained uncharacterized by RDB and ARMS analysis. During delineation of the mutations in uncharacterized carriers by single-stranded conformational polymorphism (SSCP) and sequencing analysis, we have also been able to identify two unusual mutations, one involving an initiation codon and the second involving a novel 8-bp deletion, in Indian families of Uttar Pradesh origin.
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PMID:Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39. 1288 42


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