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 activities of orotate phosphoribosyl transferase (OPRT) and orotidine monophosphate decarboxylase (ODC) were significantly elevated (P less than 0.001) in erythrocytes (RBC) from five patients with prednisone-responsive congenital hypoplastic anaemia (CHA). (OPRT: patients - 10.1--64.2 nmol/h/10(9) RBC; controls - 2.8 +/- 0.3 (mean +/- SEM, n = 37); ODC: patients = 30--124 nmol/h/10(9) RBC; controls = 10.2 +/- 0.7 (mean SEM, n = 37).) Two patients had a less pronounced, but significant, increase of aspartate transcarbamylase activity and three patients had marginal increases of dihydroorotase activity. Dihydroorotate dehydrogenase activity was not detected in any CHA patient or control. In one patient prior to prednisone therapy, the OPRT and ODT activities were elevated 10-fold and remained elevated 3-fold after 16 months of therapy. An elevated enzyme pattern similar to that of RBC from CHA patients was observed in three parents of three CHA patients, but not in three parents of two other CHA patients. The activities of all five pyrimidine enzymes were normal for one patient with transient erythroblastopenia of childhood. In contrast, the activities of all the pyrimidine biosynthetic enzymes were elevated in blood from patients with a young RBC population: sickle cell anaemia, sickle-beta-thalassaemia, hereditary spherocytosis, and DiGuglielmo syndrome and from the newborn. It is postulated that factors which affect the activities of pyrimidine enzymes in CHA may also result in diminished erythropoiesis.
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PMID:Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 3 27

Normal adults may have two distinct erythroid precursor populations, a major one which produces only adult haemoglobin (HbA), and another which produces HbA and fetal haemoglobin (H0F) (F cells). Persistence or apparent reactivation of HbF production in adults results from differential selection of these F cells, except in those rare conditions which are due to specific deletions of D.N.A. involved in suppression of gamma-chain synthesis. The increase in HbF which results from a genetically determined increase in F cells appears to ameliorate sicke-cell anaemia or beta thalassaemia. Augmentation of the F-cell population might offer a therapeutic approach to these disorders.
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PMID:A model for the persistence or reactivation of fetal haemoglobin production. 6 May 21

The effects of intramuscular injection and subcutaneous infusion of desferrioxamine (D.F.) on urinary iron excretion were compared in eleven patients with thalassaemia major and one with congenital sideroblastic anaemia who were being maintained on regular blood-transfusions. Total (48-hour) urinary iron excretion ranged from 3-3 to 40-3 mg (mean 16-3 mg) in nine patients who received 750 mg D.F. intramuscularly before transfusion and from 3-9 to 32-3 mg (mean 11-9 mg) in ten patients who received D.F. by the same route after transfusion. In all 9 patients studied before transfusion, continuous subcutaneous infusion of 750 mg D.F. over 24 hours increased iron excretion by 61-5 to 135-8% (mean 101+/-25-4 S.D.%) compared with intramuscular injection of a similar dose. In the 10 patients studied after transfusion, the iron excretion produced by continuous subcutaneous infusion was from 18-9 to 213% (mean 128+/-74-3%) more than that produced by a single intramuscular injection of D.F. When the subcutaneous dose over 24 hours was increased to 1500 mg in six patients, 48-hour iron excretion ranged from 29-2 to 81-2 mg (mean 52-4 mg) and was increased by 80-2--794% (mean 429%) compared with the excretion when 750 mg was given by intramuscular injection. It is concluded that continuous subcutaneous infusion of D.F. produces more iron excretion in patients with iron overload than intramuscular injection. Providing a suitable portable pump can be carried by the patients, continuous subcutaneous infusion of desferrioxamine may prove a valuable means of preventing or treating iron overload in anaemic patients maintained on regular transfusions.
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PMID:Subcutaneous infusion and intramuscular injection of desferrioxamine in patients with transfusional iron overload. 6 49

Prenatal diagnosis of beta-thalassaemia and sickle-cell anaemia was attempted in 24 pregnancies. Adequate amounts of fetal blood (for studying globin-chain synthesis) were obtained in 22 cases. 4 cases of homozygous beta-thalassaemia and 2 of sickle-cell anaemia were diagnosed. The difference between the homozygous and non-homozygous states was well defined. Fetal bleeding from cord puncture and amnionitis resulted in the loss of three fetuses, and methods to avoid these complications are being devised. It is concluded that prenatal diagnosis of disorders of beta-globin synthesis is feasible.
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PMID:Prenatal diagnosis of beta-thalassaemia and sickle-cell anaemia. Experience with 24 cases. 6 2

The effect of 12 and 24 h continuous subcutaneous infusion of desferrioxamine (D.F.) on urinary iron excretion was compared in 13 patients with beta-thalassaemia major and 1 with congenital sideroblastic anaemia, all of whom were receiving regular blood-transfusions. 750 mg D.F. given over a 12 h period, gave a mean total (30 h) iron excretion of 17-5 mg, which was not statistically different from the mean iron excretion of 21-5 mg when the same dose was delivered over 24 h. 1500 mg D.F. gave a mean urinary iron excretion of 28-1 mg with a 12 h infusion, which was significantly less than the mean iron excretion of 39-6 mg with 24 h infusion. The 1500 mg dose gave a significant increase in iron excretion compared with the 750 mg dose when given by either 12 h or 24 h infusion. 7 of 8 patients, given D.F. over a 12 h period, had increased iron excretion when the dose was increased from 750 to 2000 mg. When the dose was increased to 4000 mg, however, the effect on iron excretion was variable. On the other hand, ascorbic-acid therapy was invariably associated with increased iron excretion after subcutaneous D.F. In twelve studies at different dose levels of D.F., ascorbate therapy was associated with increased iron excretion ranging from 24 to 245%. It is concluded that in most patients with transfusional iron overload subcutaneous D.F over a 12 h period, at a dose ranging from 2 to 4 g daily with ascorbic-acid saturation, is at present the most satisfactory method of removing excess iron.
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PMID:Effect of dose, time, and ascorbate on iron excretion after subcutaneous desferrioxamine. 6 69

Serum lipids, phospholipid fractions and the composition of serum lipid fatty acids were studied in 20 children presenting beta-thalassaemia major, 20 heterozygous children and 20 normal controls. Total serum phospholipids, their fractions and cholesterol were significantly lower in patients with thalassaemia major. These changes were referred to hepatic damage and to severe anaemia, respectively. Some serum lipid polyunsaturated fatty acids were significantly decreased in patients with thalassaemia major as compared to heterozygotes and normal controls. Since these alterations are a sign of lipid oxidation, the causes of this phenomenon are discussed.
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PMID:Serum lipid pattern in beta-thalassaemia. 9 49

Globin chain synthesis has been investigated for the first time in 2 patients homozygous for haemoglobin Lepore, although the 2 brothers have the same haemoglobin genotype the severity of the diseases is very different. The purpose of this study was to try and find out the reason for the different severity in the clinical manifestations. In the 2 patients a different excess of alpha-chain synthesis was observed, the higher excess being present in the subject carrying the more severe anaemia. This result strongly suggests that in homozygous haemoglobin Lepore disease, as in beta-thalassaemia, the degree of globin chain imbalance is responsible for the clinical manifestations.
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PMID:Synthesis of alpha, delta-beta and gamma chains by reticulocytes from two brothers homozygous for haemoglobin Lepore. 10 2

Left ventricular performance was studied in 23 young patients with severe chronic anemia due to beta-thalassemia major and intermedia. The patients were divided into three groups according to the number of blood transfusions they had received. The left ventricle (LV) was enlarged in patients who had not received blood and larger still in patients who had received multiple transfusions. Echocardiography and systolic time interval measurements showed that systolic function of the LV was good in all the patients and that there was no statistical difference in systolic function in patients who had and those who had not received multiple transfusions. Heart rate was increased in the latter group. Stroke index and cardiac index were high, especially in patients in Group 3. The diastolic closure rate (EF slope) of the anterior mitral leaflet and its amplitude of movement were increased, but less so in Group 3; this may reflect an alteration in diastolic LV distensibility. The results indicate that despite the presence of cardiomegaly and severe clinical congestive heart failure, LV performance is well preserved in patients with beta-thalassemia, even in those who have received repeated blood transfusions. Clinical cardiac failure is the consequence of volume overload and abnormal chamber compliance. There was no evidence in this of a congestive cardiomyopathy.
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PMID:Left ventricular function in beta-thalassemia and the effect of multiple transfusions. 16 23

The existence of frequent hemoglobin abnormalities raises a Public Health problem in Algeria. The presence of genes for hemoglobin S, hemoglobin C and thalassemia in various regions of the country causes severe congenital hemolytic anemias: thalassemia, sickle-cell anemia, S thalassemia, association of HbS and HbC. These diseases are often invaliding requiring frequent admissions to hospital and have a high social cost. We have also observed certain rare hemoglobins, of which some, hemoglobin Setif, hemoglobin D Ouled Rabah were described for the first time in Algerians. They are not pathogenic in the heterozygous state.
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PMID:[Abnormal hemoglobins in Algeria]. 19 6

The study of 176 subjects with beta-thalassemia, associated or not with a hemoglobinopathy, shows great diversity. The hemoglobin C thalassemias are less severe and form a fairly homogeneous group. Sickle cell thalassemia cases have more marked anemia and the disease takes on more varied forms, no doubt because the main mechanism of the anemia, the hyperhemolysis, is influenced by several factors which have a variable effect on the clinical picture. Unassociated thalassemias seem the most polymorphic. Although it seems that in certain foci the beta-thalassemias are fairly stereotyped, this first study shows in Algeria great heterogeneity. All forms are observed both clinically and in the laboratory. Present classifications have not supplied a sufficiently operative model. It is not doubt necessary to await further progress in the laboratory to classify these diseases more precisely.
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PMID:[Clinical and biological aspects of beta-thalassemia. Apropos of 176 cases]. 19 8


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