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

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.
Diabetes 1977 Mar
PMID:Carbohydrate metabolism and pancreatic islet-cell function in thalassemia major. 32 76

Seven patients had sickle cell trait (hemoglobin AS) and vasoproliferative retinopathy. The retinal abnormalities in these seven patients were indistinguishable from those seen in patients with clinically significant sickling hemoglobinopathies (sickle cell-hemoglobin C disease, hemoglobin S-thalassemia disease, and sickle cell anemia). All seven patients also had some evidence of associated systemic disease such as diabetes, syphilis, tuberculosis, or sarcoidosis. In the presence of an associated systemic disease, marked retinopathy can occur in the ordinarily benign condition of sickle cell trait.
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PMID:Proliferative retinopathy in sickle cell trait. Report of seven cases. 84 50

Certain uncommon genetic disorders occur relatively frequently in the various population groups of Southern Africa. Prominent among these are porphyria, colonic polyposis and sclerosteosis in the Afrikaner community, Huntington's chorea in the British, Gaucher's and Tay-Sachs diseases in the Jewish population, glucose-6-phosphate dehydrogenase deficiency (G-6-PD deficiency) and thalassaemia in the Greek community, various skeletal dysplasias in the Black group, lipoid proteinosis and cleidocranial dysostosis in the Cape Coloured population, diabetes mellitus in the Indian community and retinitis pigmentosa in the Tristan da Cunha islanders. In addition, 'private' syndromes have been encountered in virtually every group. Awareness of the ethnic distribution of unusual genetic conditions is of considerable practical importance during the differential diagnosis of obscure disease.
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PMID:Genetic disorders in Southern Africa. 95 24

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

Onset of diabetes mellitus (DM) during childhood and adolescence is still relatively uncommon in Indonesia compared to many other countries in Europe and the American continent. Two surveys done in two big cities in Indonesia (Semarang, 1974 and Surabaya, 1977) showed a prevalence of 0.2-0.26% in the age group of 6-20 years. In our clinic we have seen 28 patients with DM from 1973-1988. All were insulin dependent. The youngest was 1 year, the oldest 15 years of age. The peak age group was 6-10 years. Male/female ratio was 1:3. Fifteen children experienced ketoacidosis of whom 6 had it more than once. Two children had major thalassemia, both died. Six other patients died due to severe infections and inadequate treatment. One girl of 5 years had Grave's disease. Most of the patients belonged to the low socio-economic group for whom adequate treatment was not always possible.
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PMID:Childhood onset of diabetes mellitus. Report on hospital cases. 207 23

The kidney is involved in virtually all individuals who inherit the sickle cell form of hemoglobin. Though asymptomatic and relatively common, proteinuria in patients with sickle cell anemia (SS) over 40 years old is associated with reduced creatinine clearance. The subclinical increase in urinary albumin is termed microalbuminuria and is a marker of preclinical glomerular damage. The aim of the present study was to determine the presence of microalbuminuria measured by radioimmunoassay in patients with sickle cell disease. The study included 41 patients with SS, 11 patients with hemoglobin SC disease, 4 subjects with S beta-thalassemia and 10 normal controls. All subjects were teenagers or adults. Sixteen SS patients (40%) and 1 SC (9%) and 1 S beta (25%) patient presented mean urinary albumin excretion (UAE) above normal values (30 mg/l. No correlation was observed between UAE and age, creatinine clearance, hemoglobin level or %HbF. These parameters, as well as the presence of leg ulcers, were not significantly different between SS patients with and without UAE above 30 mg/dl. The high prevalence of microalbuminuria in patients with sickle cell anemia indicates that glomerular damage is common. The connection between microalbuminuria and clinical nephropathy has been demonstrated in diabetes and may indicate a sign of early disease rather than a marker for susceptibility. Thus, microalbuminuria may be an early indicator of glomerular damage for patients with sickle cell disease.
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PMID:Microalbuminuria in sickle cell disease. 213 17

Evaluation of diabetic control was performed by using fasting plasma glucose, hemoglobin A1 and fructosamine in 139 patients with diabetes mellitus, and 36 normal controls. A linear correlation of fasting plasma glucose with fructosamine and hemoglobin A1 was found. Using fasting plasma glucose alone was found to be inadequate to define good control. HbA1 and fructosamine had an acceptable sensitivity and specificity in assessment of diabetic control, although fructosamine was slightly less sensitive than HbA1. In patients with thalassemia, hemoglobin A1 levels were elevated in 18 of 19 patients. Fructosamine levels also gave misleading results since 6 to 19 patients had an elevated level and one patient had a decreased level. Patients with hypoproteinemia had a decreased fructosamine and hemoglobin A1 level compared to normal control. HbA1 and fructosamine should be cautiously interpreted in patients with thalassemia and hypoproteinemic states. Using these methods in combination with other measure such as home monitoring of blood glucose would be more precise particularly in diabetic patients with hypoproteinemia, abnormal hemoglobin and other hemolytic disorders.
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PMID:Evaluation of diabetic control by using hemoglobin A1 and fructosamine. 238 Jun 44

Blood glucose and serum immunoreactive insulin levels were measured following an oral glucose load in 20 unrelated children with multiple transfused thalassaemia. Results suggest that even though overt diabetes and glucose intolerance are uncommon before the age of 13 years, the presence of insulin resistance is evident, especially in those who have been splenectomized.
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PMID:Glucose tolerance test and insulin levels in children with transfusion-dependent thalassaemia. 241 72

Melioidosis is an infection of humans and animals caused by a gram-negative motile bacillus, Pseudomonas pseudomallei. Forty-nine patients with melioidosis complicating diabetes mellitus, collagen vascular disorders, leukemia/lymphoma, and other hematologic malignancies are described. Twenty-nine of these patients had disseminated/septicemic infection, two developed toxic shock syndrome, and one with AIDS experienced recrudescent melioidosis. Patients with disseminated melioidosis often have a variety of defects in cellular immunity both in vitro and in vivo. In humans with recrudescent melioidosis, cellular immunity can be transferred by a transfer factor and by levamisole, a cellular immunopotentiating agent. The results of the treatment of our patients with disseminated/septicemic melioidosis with antimicrobial agents in combination have been successful. In recent years, four cases of fungal arteritis due to Pythium species and one case of keratitis due to Pythium were seen. Almost all patients with fungal arteritis had thalassemia; all presented with pain in the lower extremities and gangrenous lesions of the toes. Pythium species, an aquatic Phycomycetes, was identified in these cases as a human pathogen on the basis of clinical features, pathologic findings, and--of greatest importance--the isolation of the etiologic fungi. These five cases with remarkably similar presentations exhibited certain similarities with and differences from cases of mucormycosis, entomophthoromycosis, and peniciliosis.
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PMID:Tropical disease in the immunocompromised host: melioidosis and pythiosis. 260 81

Iron-chelating treatment is indicated in all children on prolonged transfusion therapy (i.e., chiefly patients with thalassemia and Blackfan-Diamond anemia). The purpose of iron-chelating treatment is to prevent the development of manifestations of iron overload including cardiac hemosiderosis and insulin-dependent diabetes mellitus (which are two potentially fatal complications), hepatic cirrhosis, hypoparathyroidism, hypothyroidism, and delayed puberty. Deferoxamine is the only effective iron-chelating agent and should be given in a daily dose of 40 mg/kg at initiation of the transfusion program. Administration is by subcutaneous infusions from 8 to 10 hours per day. The goal of iron-chelating treatment is to maintain serum ferritin levels between 500 and 1,000 ng/ml. This long-term treatment is a significant burden for patients and it can be hoped that non-toxic iron-chelating agents, active by mouth, will become available.
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PMID:[Iron chelation in children]. 268 51


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