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 patients with thalassemia intermedia in whom hyperabsorption of iron may result in serious organ dysfunction, an orally effective iron-chelating drug would have major therapeutic advantages, especially for the many patients with thalassemia intermedia in the Third World. We report reduction in tissue iron stores and normalization of serum ferritin concentration after 9-month therapy with the oral chelator 1,2-dimethyl-3-hydroxypyrid-4-one (L1) in a 29-year-old man with thalassemia intermedia and clinically significant iron overload (SF 2,174 micrograms/L, transferrin saturation 100%; elevated AST and ALT, abnormal cardiac radionuclide angiogram) who was enrolled in the study with L1 75 mg/kg/day after he refused deferoxamine therapy. L1-Induced 24-hour urinary iron excretion during the first 6 months of therapy was (mean +/- SD, range) 53 +/- 30 (11 to 109) mg (0.77 mg/kg), declining during the last 3 months of L1 to 24 +/- 14 (13-40) mg (0.36 mg/kg), as serum ferritin decreased steadily to normal range (present value, 251 micrograms/L). Dramatic improvement in signal intensity of the liver and mild improvement in that of the heart was shown by comparison of T1-weighted spin echo magnetic resonance imaging with images obtained immediately before L1 administration was observed after 9 months of L1 therapy. Hepatic iron concentration decreased from 14.6 mg/g dry weight of liver before L1 therapy to 1.9 mg/g liver after 9 months of therapy. This constitutes the first report of normalization of serum ferritin concentration in parallel with demonstrated reduction in tissue iron stores as a result of treatment with L1. Use of L1 as a therapeutic option in patients with thalassemia intermedia and iron overload appears warranted.
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PMID:Reduction of tissue iron stores and normalization of serum ferritin during treatment with the oral iron chelator L1 in thalassemia intermedia. 158 21

The kinship analysis of seven genetic systems in the province of Ferrara permits some considerations on the possible chronology of emergence of their polymorphisms in the area. It is proposed that, assuming neutrality of these systems, and under several restrictions, the emergence by migration of the polymorphisms in the seven systems ACP, ESD, GLO, GPT, PGD, PGM1, PGP might have had the following sequence: PGP and GLO and possibly PGD; PGM1 and GPT; ACP and ESD. All polymorphisms must be older than the beta-thalassemia polymorphism in the area.
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PMID:Kinship structures and migration in the Po Delta. 135 Jan 89

To study the potential of multivariate classification methods in order to obtain more insight into abnormal laboratory data from patients with sickle cell disease, we investigated standard haematological and clinical chemical variables of 18 controls and 37 apparently healthy persons with heterozygous sickle cell disease (Hb AS), all women, using both univariate and multivariate classification methods. In the univariate method, those with Hb AS showed decreased serum log aspartate aminotransferase (log AST) activity, mean corpuscular volume and mean corpuscular haemoglobin (MCH) and increased sodium concentration. The multivariate method identified sodium, potassium, urea, uric acid, log AST, alanine aminotransferase and MCH as the variables that produced maximal separation between persons with Hb As and controls. It increased the 'non-error rate' for classification of persons with Hb AS by 16.4% compared with classification based on the variable, MCH, that produced maximal separation by the univariate method. The frequency distribution of percentage Hb S in the Hb AS group proved bimodal with maximal separation at 37.0% Hb S. The subgroup with 37.0% or less (n = 16) was considered to have concomitant heterozygous alpha-thalassaemia-2. In the univariate method the subgroup characterized by greater than 37.0% Hb S (n = 21) had increased serum sodium and uric acid concentrations, perhaps related to sickle cell nephropathy, whereas the subgroup with less than or equal to 37% Hb S did not. The multivariate method added information to the univariate method by additionally identifying abnormalities in serum potassium and urea concentrations in the former subgroup.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Potential of descriptive linear discriminant analysis for studying clinical chemical and haematological data from persons with heterozygous sickle cell disease. 189 49

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

The genetic structure of the population of Ferrara Province in the Po delta in Italy was investigated using chi 2 analysis, kinship analysis, analysis of correspondences, and geographical mapping of principal components of gene frequencies. chi 2 Analysis tests for Hardy-Weinberg equilibrium and for heterogeneity of gene and phenotype frequencies; kinship analysis tests for association between indicators of genetic and geographic proximity; analysis of correspondences relates localities and genetic systems in an eigenvectorial space; and geographic mapping displays the principal components of gene frequencies in the real space. In 1,364 adults in 26 residential units, seven presumably neutral isoenzyme systems were typed; ACP1 ESD, GLO I, GPT, PGD, PGM1 and PGP. It was found that average kinship for these neutral systems is correlated with geographic distance in this small area, but not as strongly as kinship for beta-thalassemia. A north-south gradient was observed for ESD. Analysis of correspondences indicated GPT, PGM1, and GLO I as the systems contributing most to differentiation within the province. The maps obtained from principal components of gene frequencies were consistent with the migrational history of the area.
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PMID:Genetic structure of the human population in the Po delta. 274 51

The relationship between the number of units of blood transfused and indicators of iron status in 37 patients with sickle cell anaemia (Hb SS), SC disease (Hb SC) or S beta-thalassaemia has been studied. The correlation coefficient between serum ferritin and the number of units transfused was good (r = 0.86), provided that ferritin samples taken within one week following a crisis were excluded. The relationship of transfusion history to serum ferritin in the steady state showed a similar relationship to that previously observed for other multiply transfused patients. The serum ferritin taken within 7 days of a painful crisis was significantly greater than the serum ferritin from the same patients in the steady state (p less than 0.025). The serum alanine transaminase did not rise as consistently as the serum ferritin during crises; it correlated with the serum ferritin but not the transfusion burden in the steady state. Transferrin iron saturation correlated less clearly with transfusion history than serum ferritin (r = 0.62). Patients who had received exchange transfusions were less likely to be iron-overloaded (ferritin increment per unit of blood = 9.9 +/- 3.8 micrograms/l) than patients who had received an equivalent number of units by conventional transfusion (ferritin increment per unit of blood transfused = 25.1 +/- 2.42 micrograms/l).
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PMID:Transfusion and exchange transfusion in sickle cell anaemias, with particular reference to iron metabolism. 312 Apr 72

Preliminary results of a trial involving a yeast-derived hepatitis B vaccine administered to 41 transfusion-dependent thalassaemic patients and 2 patients with spherocytosis are reported. Twenty-microgram doses of HBsAg were administered according to either a 0, 1, and 6 month or 0, 1, and 2 month schedule. Serum specimens collected prior to vaccination, one month after each vaccine dose, and again at 5 and 15 months, were tested for HBV markers and ALT. To date, seroconversion (anti-HBs titres greater than 10 IU/l) was observed in 15%, 67%, and 86% of patients one month following the three vaccine doses, respectively. Although the study is still in progress, a comparison of these results with those previously obtained using plasma-derived vaccine indicates that seroconversion to the recombinant yeast-derived vaccine is at least as high as that obtained by plasma-derived vaccines in patients affected by thalassaemia major.
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PMID:Yeast-derived hepatitis B vaccine in thalassaemic patients: a preliminary report. 331 53

Liver function during continuous subcutaneous deferoxamine therapy was investigated in 29 patients with homozygotic beta-thalassaemia. Average duration of treatment was 26 months (range 8-51 months). A decrease in haemosiderosis and an improvement in liver function was observed in 27 patients: Mean liver density, determined by computed tomography, decreased from 98 to 84 HU, mean serum ferritin concentration fell from 8028 to 3661 ng/ml, mean serum GOT activity from 44 to 13 U/l and GPT from 51 to 16 U/l. Mean cholinesterase activity, reflecting the improved synthetic activity of the liver, increased from 4063 to 4530 U/l.
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PMID:[Continuous subcutaneous deferoxamine treatment in thalassemia major. Decrease of hemosiderosis and improvement of liver function]. 406 38

Incidence, clinical course and outcome of viral hepatitis was evaluated during a 42 mo. study in 118 Thalassaemia minor patients, compared with a paired group of 123 nonthalassaemic subjects, matched for age, sex and number of drug addicts. In the thalassaemics, which account for 13% of residents in our area, acute hepatitis showed to have an incidence of 1.3-1.7 higher than the control group. The acute course was milder and more protracted and the number of evolution into chronicity was more elevated: 19.7% vs. 11.3%, following hepatitis B, and 40.6% vs. 23.7% following NANB hepatitis. However data were statistically significant only as regard as differences between ALT (p less than or equal to 0.05, B-H; p less than or equal to 0.01, NANB-H) and IgM in the group of B hepatitis only (p less than or equal to 0.05) Differences between elongation of course were also significant in both types of hepatitis (p less than or equal to 0.01). Pathogenetic aspects such as depressed cellular immunity and hepatic disorders due to thalassaemia, which may explain the higher incidence of hepatitis and the tendency of evolution into chronicity, are discussed.
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PMID:[Hepatitis in thalassemia minor: incidence and evolution]. 644 58

GPT polymorphism was studied in 500 voluntary blood donors from the Bologna population. The following phenotype frequencies were obtained: GPT 1 = 29.60%, GPT 1-2 = 49.80% and GPT 2 = 20.60%. The frequencies of the alleles were: GPT1 - 0.545 and GPT2 = 0.455. Analysis of 24 informative families has excluded linkage between GPT and beta-thalassaemia.
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PMID:GPT polymorphism in the population of Bologna and linkage analysis with beta-thalassaemia. 735 90


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