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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Levels of retinol (vitamin A), carotenoids and triglycerides in the serum of 50 children with homozygous beta-thalassemia have been studied, as well as the ability of the small intestine to absorb a test meal containing retinol palmitate, triglyceride, d-xylose and glucose. On the other hand, 8 patients underwent a dark-adaptation test, and in 40 children with homozygous beta-thalassemia the levels of retinol-binding protein in the serum were estimated. The mean levels of retinol, carotenoids and triglycerides in the serum of the patients were: 23 +/- 4.1 micrograms/dl (controls: 36.3 +/- 4.9), 44 +/- 15.5 micrograms/dl (controls: 103 +/- 24), 117 +/- 20 (controls: 126 +/- 26), respectively. The absorption from the small intestine of retinol, triglycerides, glucose and d-xylose was normal. 6 out of 8 patients studied for visual function showed an abnormal dark-adaptation test, and these 6 children had low serum retinol levels. Finally, the mean serum levels of retinol-binding protein in the patients were 4.74 +/- 0.53 mg/dl (controls: 5.63 +/- 0.58). The low retinol levels were correlated with the low retinol-binding protein values which, in turn, could be due to the abnormal liver function of the patients.
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PMID:Serum levels of retinol, retinol-binding protein, carotenoids and triglycerides in children with beta-thalassemia major. 11 97

Pituitary, adrenal, and pancreatic functions were investigated in 9 patients with thalassaemia major. 9 a.m. plasma ACTH values were 148-480 pg/ml (normal range 15-70 pg/ml). Cortisol and growth hormone response to insulin-induced hypoglycaemia was normal in all. 24-hour urinary excretions of 17-ketosteroids and 17-hydroxycorticosteroids were normal. There was normal cortisol response to intramuscular injection of ACTH. In a physiological adrenal stimulation test there was a significantly smaller response to each physiological dose of tetracosactrin. 4 patients had diabetic glucose tolerance tests--none are clinically diabetic. The mean plasma glucose utilization constant (Kgl=2-02) is significantly smaller than normal. Plasma insulin response both in the oral and the intravenous glucose tolerance test was significantly smaller than normal. The data were consistent with severe and widespread impairment of endocrine function and a plausible explanation would be iron deposition in endocrine organs. It is suggested that pituitary hyperfunction of ACTH secretion is due to target organ unresponsiveness which can be shown in its early stages only by a physiological test of the adrenal cortex. Skin pigmentation in thalassaemia seems to be due to the melanophore-stimulating effect of this raised plasma ACTH.
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PMID:Endocrinopathy in thalassaemia major. 18 88

To investigate the development of diabetes mellitus in patients with thalassemia major, plasma glucose and immunoreactive insulin (IRI) levels following oral glucose and intravenous tolbutamide and glucose disappearance rates following intravenous insulin were measured in 10 patients before and during five years on a high transfusion program (HTP). Plasma immunoreactive glucagon (IRG) levels following oral glucose, intravenous insulin, and arginine were measured during the sixth year. Serial percutaneous liver biopsies were performed on seven patients. The oral glucose tolerance tests (OGAT) and mean peak IRI levels were normal in nine of 10 patients before HTP. After HTP was begun a progressive deterioration of OGTT occurred despite normal IRI levels. Following tolbutamide, the mean per cent fall in plasma glucose in the patients before HTP was significantly less than in controls (p less than 0.01) and similar to that of controls during five years of HTP in spite of higher than normal peak IRI levels. Of seven survivors after six years of HTP, three had normal OGTT and four had chemical diabetes; mean peak IRI levels were normal, but fasting IRG levels were significantly higher than in controls (p less than 0.05). In all seven patients, plasma IRG failed to increase following insulin-induced hypoglycemia and was significantly higher than in controls after arginine (p less than 0.01); after oral glucose, plasma IRG fell significantly below that of fasting only in the patients with chemical diabetes (p less than 0.03). Following intravenous insulin, the mean per cent fall in glucose before and during HTP was significantly less than in controls (p less than 0.01). Hemosiderosis and cirrhosis were present in all biopsied patients. Four patients died; two had chemical and two had nonketotic insulin-dependent diabetes. These data suggest that diabetes mellitus occurs frequently in patients with thalassemia on HTP and that insulin resistance and hyperglucagonemia, possibly due to cirrhosis, are important etiologic factors.
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PMID:Carbohydrate metabolism and pancreatic islet-cell function in thalassemia major. 32 76

Minor fetal hemoglobins in red cell hemolysates of newborn and adults with elevated levels of Hb F have been separated and quantitated by Biorex 70 column chromatography. In addition to Hb F1, other minor hemoglobin zones eluting before F1, pre-F1, and after F1, post-f1 have been observed. The relative amounts of the two pre-F1 zones and F1 are higher in the red cells of adults with 97--100% Hb F (homozygous hereditary persistence of fetal hemoglobin, homozygous deltabeta-thalassemia and homozygous beta0-thalassemia) than in the red cells of an adult with homozygous beta+-thalassemia with 66% Hb F, a child with a trisomy-D-13 having 38% Hb F, and in two newborn. Hb F was glycosylated in vitro with [14C]glucose or [14C] glucose 6-phosphate, and was acetylated using chicken reticulocyte lysate or a crude acetyltransferase preparation isolated from the same lysate with [14C]acetyl-CoA as substrate. Chromatographic analyses indicated that the Hb F1 zone can be formed both by glycosylation and acetylation of Hb F, and that pre-F1 zones can be products of the reaction of Hb F with phosphorylated glycolytic intermediates. Biosynthesis of minor hemoglobins in reticulocytes was studied with [14C]leucine in the presence and absence of cycloheximide and by pulse-chase. The resulting data indicate that Hb F1 synthesis is dependent upon Hb F synthesis and that the posttranslational modification may take place at an early stage in Hb F synthesis.
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PMID:On the chromatographic heterogeneity of human fetal hemoglobin. 42 12

Hematological studies were performed systematically in 101 refugees from South-Eastern Asia living in the Grenoble area at the present time. We found: --4 haemoglobin E homozygosity, --29 haemoglobin E heterozygosity, --2 beta-thalassemia heterozygosity, --4 alpha-thalassemia heterozygosity, --14 glucose 6 phosphate dehydrogenase deficiencies.
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PMID:[Hemoglobin abnormalities and glucose 6 phosphate dehydrogenase deficiency (G6PD) in 101 refugees from southeast Asia]. 75 89

Normal red blood cells, preincubated for 75 min with 1.15 mM menadione sodium bisulfite lose potassium and water on subsequent incubation at 37 degrees C for 24 h without menadione. The potassium loss is increased by addition of calcium and prevented by addition of glucose. Since normal red cells treated with menadione behave like untreated hypochromic cells, both from beta-thalassaemia or iron deficiency anaemia in respect to membrane permeability to potassium, it may be supposed that menadione induces in normal red cells an abnormality similar to that naturally occurring in hypochromic cells.
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PMID:Increased potassium permeability induced in vitro by menadione in normal human red cells. 84 Dec 69

Patients with severe thalassaemia major suffer endocrine and other abnormalities before their eventual death from iron overload due to repeated blood transfusions. The endocrine status of 31 thalassaemic patients aged 2-5 to 23 years was investigated. Exact data were available on the rate and duration of blood transfusion in all of them and in many the liver iron concentration was also known. Although the patients were euthyroid, the mean serum thyroxine level was significantly lower, and the mean thyrotrophic hormone level significantly higher, compared with the values found in normal children. Forty oral glucose tolerance tests with simultaneous insulin levels were performed in 19 children, of whom 5 developed symptomatic diabetes and one had impaired tolerance. Previous tests on all 6 patients were available and some showed raised insulin levels possibly due to insulin resistance. 2 patients had clinical hypoparathyroidism and are described. The parathyroid hormone levels determined by radioimmunoassay in 25 patients were below the mean for the age group in all and outside the reference range in 16. Nonfasting plasma calcium levels were not reduced. Puberty was delayed in some patients. Concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) measured in urine from 7 girls and 5 boys showed considerable variation. In the boys there was an overall tendency for FSH and LH excretion to be low with regard to age, but with respect to puberty rating FSH exretions were normal or low and LH normal or raised. The girls showed a tendency for LH but not FSH excretion to be raised in relation to puberty rating. The severity of the endocrine changes was related to the degree of iron loading and is discussed in relation to previous work in which the iron loading has rarely been accurately indicated nor parathyroid status assessed.
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PMID:Hormonal changes in thalassaemia major. 100 88

We studied a patient with severe anemia and jaundice who exhibited a high hemoglobin A1 (HbA1) level secondary to an increase in HbF despite normal glucose tolerance. The red blood cells showed anisocytosis, poikilocytosis and polychromasia; target cells, Howell-Jolly bodies, Heints bodies and punctate basophilia were observed. No defect or reduction in activity was observed in 19 red cell enzymes. A family history of similar anemia in the patient's daughter and cousins on the mother's side indicated an involvement of genetic factors. Gene cloning and DNA analysis showed that the condition is a new type of beta 0-thalassemia caused by a nonsense mutation (GAG----TAG) in codon 90 of the beta-globin gene.
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PMID:Beta 0-thalassemia due to a nonsense mutation at beta 90 (GAG----TAG) in human hemoglobin gene. 221 42

Pyrimidine 5' nucleotidase (P5'N) acquired deficiency has been found in several hematologic disorders including beta-thalassemia. Our previous studies suggested that the aldehydes produced during membrane lipid peroxidation could play a role in P5'N inactivation in thalassemia. To evaluate the effects of the thalassemic "environment" on transfused red blood cells, we tested P5'N, pyruvate kinase (PK), glucose 6-phosphate dehydrogenase (G-6PD) activity, creatine content, reduced glutathione (GSH) levels and the hexose monophosphate shunt (HMS) in the red cells of homozygous transfusion-dependent thalassemic children, immediately following and again one month after transfusion. In red cells aged in thalassemic plasma, P5'N activity, creatine level, GSH stability and stimulated HMS flux were significantly decreased. These results fit in with the presence in thalassemic plasma of molecules interfering with antioxidant red cell defenses. Normal red cells incubated in thalassemic plasma display a significant stimulation of the basal HMS (p less than 0.01). Transfused red cell metabolic alterations could be explained by the plasma pro-oxidant activity and may contribute to reducing red cell survival in the host plasma.
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PMID:Pyrimidine 5'-nucleotidase and oxidative damage in red blood cells transfused to beta-thalassemic children. 227 76

The effectiveness of a new filter (RC100) for the preparation of white cell-depleted red cells (RBCs) at the bedside was evaluated in vitro and in vivo using three RBC products: standard RBC concentrate (CPDA units), RBCs suspended in saline-adenine-glucose-mannitol additive solution after the removal of plasma (SAGM units), and RBCs suspended in SAGM after the removal of plasma and buffy coat (SAGM-BC units). Median RBC recovery was at least 92 percent when 2 units were administered through one filter; median values for residual white cells and platelets were less than or equal to 20 x 10(6) and less than or equal to 2.5 x 10(9) per 2 units, respectively. The in vivo study was carried out in 80 multiply transfused patients with thalassemia, 35 of whom had experienced frequent nonhemolytic transfusion reactions when given standard or buffy coat-free RBCs. During the 6-month study, each patient was given two transfusions of each type of RBC product One febrile nonhemolytic transfusion reaction occurred in each of two patients receiving SAGM-BC units, but in no other case. If the flow rate is not reduced, the median transfusion time is 35 minutes per CPDA unit and 15 minutes per SAGM and SAGM-BC unit. It is concluded that the transfusion of RBCs through the RC100 is a simple and effective procedure to administer white cell-depleted RBCs prepared at the bedside.
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PMID:Removal of white cells from red cells by transfusion through a new filter. 229 86


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