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

In order to investigate the pancreatic function in patients with thalassaemia major, plasma glucose and immunoreactive C-peptide levels were determined in 9 diabetic thalassaemic patients and in 7 controls after arginine infusion. Mean basal and peak values and C-peptide areas in thalassaemic patients did not differ significantly from those of the controls. However, in the thalassaemic group there was a greater variation in values, since pancreatic beta-cell function was found either normal, reduced or increased. These findings could suggest that different factors may lead to diabetes which complicates thalassaemia, i.e. insulin-resistance, probably due to liver damage subsequent to iron deposition and infectious hepatitis, and insulinopenia, probably due to beta-cell lesion following iron storage in the pancreas.
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PMID:Beta-cell function assessed by plasma C-peptide evaluation in diabetic thalassaemic patients. 634 76

Glycosylated hemoglobin (HbA1) is considered to be representative of prior blood-glucose levels and is being used in pregnant and nonpregnant diabetic patients as a possible index of both long and short-term glucose-control. Factors other than blood-glucose concentration have been reported to affect its value. Variant hemoglobin is one of them. HbA1 and blood-glucose levels were measured in pregnant patients at high risk for diabetes for screening for abnormal carbohydrate metabolism. HbA1 was measured by cation exchange column chromatography and glucose was measured by hexokinase reaction. The mean HbA1 in patients with normal blood sugars was 6.17 +/- 0.6 percent. A value of HbA1 of less than 5 percent as measured by cation exchange column chromatography was highly predictive (P less than 0.001) of hemoglobinopathies (S or C). The mean HbA1 of randomly selected matched patients with "normal" Hb was 5.94 +/- 0.72 percent. In patients with thalassemia, HbA1 values as measured by cation exchange column chromatography were elevated despite normal carbohydrate tolerance. While interpreting the results of HbA1 in the management of pregnant diabetics, the above fact should be kept in mind.
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PMID:Glycosylated hemoglobin (HbA1) and hemoglobinopathies in pregnancy. 650 39

In a group of young patients with thalassaemia and iron overload treated by subcutaneous infusions of desferrioxamine we have found a number of minor alterations in retinal function. The incidence of such changes is not related to drug dosage or to ferritin level but to abnormality of the extended glucose tolerance test.
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PMID:Ocular changes in patients undergoing long-term desferrioxamine treatment. 650 7

Total glycosylated haemoglobin (HbA1) was determined by a rapid minicolumn chromatography technique in 438 diabetic patients and correlated with the mean of fasting and post-prandial blood glucose values for the preceding six weeks. In 360 of them, free of congenital haemoglobinopathies and other detected causes of HbA1 mis-interpretation (reference group), a significant correlation was established between the HbA1 and glucose values: y = 0.54 X + 4.91; r = 791; (p less than 0.01). In 28 of the 29 patients with heterozygous haemoglobinopathies (Hb S = 17; Hb C = 8; Hb D Pundjab = 1; Hb E = 2) the apparent HbA1 values were inappropriately low. The apparent HbA1 value was above the 95% confidence limits in the 29th patient, with beta thalassaemia. In 10 out of 14 diabetics with recurrent hypoglycemic attacks, the HbA1 value was lower than the 95% confidence limits of expected values. Out of 21 diabetics with a shortened red cell lifespan (occult blood losses: 10; haemolysis: 11) 15 displayed a lower than expected HbA1 value. Among these was a diabetic patient with malaria and severe anaemia. Out of 14 diabetics with severe chronic renal failure only 3 presented with apparent HbA1 values above the 95% confidence limits.
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PMID:Haemoglobinopathies, malaria, and other interferences with HBA1 assessment. 653 3

Total glycosylated haemoglobin was determined by a minicolumn ion-exchange chromatography technique (Bio-Rad) and correlated with the mean of fasting and post-prandial blood glucose values for the preceding 6 weeks. In 360 diabetic subjects, free of congenital haemoglobinopathies and other detected causes of haemoglobin A1 misinterpretation (reference diabetic group), a highly significant correlation was established between haemoglobin A1 and glucose (y = 0.54 X +4.91; r = 0.791; p less than 0.01). In 28 of the 29 patients with heterozygous haemoglobinopathies (HbS, C, D, E), the apparent haemoglobin A1 values were lower than expected according to the 95% confidence limits of the diabetic reference group. The apparent haemoglobin A1 value was above these limits in patient 29, with beta thalassaemia. Patients with inappropriate glycosylated haemoglobin values should be investigated for causes of haemoglobin A1 misinterpretation, in particular, haemoglobinopathies.
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PMID:Haemoglobinopathies: a pitfall in the assessment of glycosylated haemoglobin by ion-exchange chromatography. 653 54

Twenty-one Thai patients with beta-thalassemia/haemoglobin E and haemoglobin H diseases, 8-20-years-old, were studied. These patients had receive none or minimal blood transfusion. The important clinical endocrine abnormalities were growth retardation and sexual immaturity. GH secretion was found to be impaired in the majority of patients. Oral GTT showed chemical diabetes in one out of sixteen tests, a much lower incidence than in thalassaemic patients treated by hypertransfusion in the West. The mean insulin levels basally and after glucose loading were lower than those of the normal controls. Thyroid function was normal in all of the patients. Serum cortisol and 24-h urinary oxogenic steroids 917 OGS) levels were normal, as was adrenal cortical reserve in all the patients. The literature on endocrine function in in thalassaemia is reviewed.
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PMID:Endocrine function in thalassaemia. 726 14

We have studied the prevalence and molecular nature of hereditary anaemias (abnormal haemoglobins, beta-thalassaemia, alpha-thalassaemia, and Glucose 6 phosphate dehydrogenase (G6PD) deficiency) in a primitive central Indian tribe, the Baiga. 43% of the population appear to be iron-deficient. Hereditary anaemia gene frequencies are, sickle cell 0.0824, G6PD deficiency (in males) 0.0457, beta-thalassaemia 0.0057, and deletional alpha-plus thalassaemia 0.65. Both -alpha 3.7 and -alpha 4.2 deletions were observed and non-deletional alpha-thalassaemia was suspected. The overall gene frequency of Xmn I+polymorphism (C-->T - 158 cap site; upstream of G gamma region) is 0.35. This polymorphism is preferentially linked to beta s genes. It appears that sickle cell disease covers a wide range of severity in the Baiga tribe based on higher mortality in the offspring of AS x AS parents (2.5/couple) compared to AA x AS (0.75/couple) and AA x AA (0.76/couple) parents. This is compatible with the high frequency of genetic modifying factors, i.e., the Xmn I polymorphism and alpha-thalassaemia. The results also indicate that "normal" red cell values must be defined for each population where thalassaemias, G6PD deficiency and iron deficiency are common.
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PMID:Hereditary anaemias and iron deficiency in a tribal population (the Baiga) of central India. 762 84

Insulin-dependent diabetes mellitus (IDDM) is a frequent complication in patients with beta-thalassaemia major. It is believed to be a consequence of the damage inflicted by iron overload to the pancreatic beta-cell. Liver disorders and genetic influences seem to be additional predisposing factors to diabetes mellitus in patients with beta-thalassaemia. Ethnic variations are frequently reported on prevalence and complications of diabetes mellitus in the beta-thalassaemia patients. We investigated 50 Saudi children (< 15 years) with beta-thalassaemia major and 50 beta-thalassaemia minor, and age- and sex-matched controls for the prevalence of diabetes mellitus, and its relation to hitherto claimed predisposing factors. Fasting blood glucose, plasma insulin level, liver function tests, plasma ferritin, iron, and transferrin were assessed in each patient and glucose tolerance was evaluated. Results in patients with beta-thalassaemia major were compared with those obtained for beta-thalassaemia minor and the controls. The results showed moderate elevation of ferritin level in the majority of the beta-thalassaemia major despite desferroxamine therapy. Either hyperinsulinaemia or hypoinsulinaemia was encountered in the majority of these patients. The prevalence of diabetes mellitus was 6 per cent compared to 2 per cent in the beta-thalassaemia minor and normal children. Impaired glucose tolerance (IGT) occurred at a significantly higher (24 per cent) frequency in the beta-thalassaemia major compared to 2 and 0 per cent in the beta-thalassaemia minor patients and normal controls, respectively. The prevalence of diabetes mellitus was significantly lower in the Saudi thalassaemic patients compared to the results obtained from patients of other ethnic groups reported in literature.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Diabetes mellitus in children suffering from beta-thalassaemia. 780 19

13C and 31P magnetic resonance spectroscopy was used to characterize the in vivo kinetics of glucose metabolism and intracellular ATP and 2,3-DPG concentrations in erythrocytes obtained from beta-thalassaemia intermedia, heterozygous beta-thalassaemic and normal individuals and maintained in suspension. Except for an upfield chemical shift in the 2P and 3P resonance of 2,3-DPG in the thalassaemia intermedia erythrocytes, the 31P spectra were comparable between all three blood types, showing similar concentrations of ATP (from 4.5 to 5.2 mumol/g Hb) and 2,3-DPG (from 17.2 to 19.7 mumol/g Hb). However, the profile of glucose metabolism was quite different in beta-thalassaemia intermedia erythrocytes, whereas glucose was consumed at a rate of 0.089 +/- 0.035 fmol/cell/h, significantly higher than that of normal (0.032 +/- 0.018 fmol/cell/h; P = 0.01) and heterozygous (0.025 +/- 0.004 fmol/cell/h; P = 0.01) erythrocytes. This near 3-fold faster rate of glucose metabolism in the thalassaemia intermedia erythrocytes could not be accounted for by any increase in glucose flux via the Embden-Meyerhof pathway, since no significant difference in 3-13C-lactate synthesis was observed among the three blood types (in units of fmol/cell/h, normal, 0.021 +/- 0.013; heterozygous, 0.021 +/- 0.006; beta-thalassaemia intermedia 0.045 +/- 0.025). These results reflect an accelerated rate of glucose metabolism in thalassaemia intermedia erythrocytes because the contribution of reticulocytes to this altered pattern of metabolism could be excluded. As the only other route of glucose metabolism in erythrocytes is the pentose phosphate pathway (PPP), these results indicate that the PPP is more active in beta-thalassaemia intermedia erythrocytes, perhaps as a consequence of their elevated intracellular oxidative state.
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PMID:In vivo metabolic studies of glucose, ATP and 2,3-DPG in beta-thalassaemia intermedia, heterozygous beta-thalassaemic and normal erythrocytes: 13C and 31P MRS studies. 781 67

Life expectancy of patients suffering from homozygous beta-thalassaemia has been improved due to the modern treatment of this disease. This has allowed development of late hemosiderosis-related complications and disturbances of the endocrine and exocrine functions of the pancreas. Carbohydrate metabolism of 16 patients with thalassaemia major was studied. Three of them presented with a pronounced clinical picture and biochemical constellations of a severe diabetes mellitus. The remainder had no clinical symptoms of carbohydrate metabolism disorders. The pancreatic beta-cell function of the patients was assessed by measuring the serum concentrations of immunoreactive insulin and by a glucose tolerance test. Most patients showed very low basal insulin levels while glucose tolerance was reduced in only one of them. In this patient we also established delayed insulin response after an intravenous glucose load. We concluded that the disturbed insulin secretion found in the children studied is most likely the earliest manifestation of the pancreatic beta-cell insufficiency which precedes the changes in the glucose tolerance.
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PMID:Secondary diabetes in children with thalassaemia major (homozygous thalassaemia). 786 89


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