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)

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

The study reports results of investigations on hemoglobin, pseudocholinesterase, Australia antigen and glucose-6-phosphate dehydrogenase in 153 mental retardates and 161 controls. beta-thalassemia and the hemoglobin phenotype AS occurred more in patients. At the pseudocholinesterase locus, the patients had significantly higher frequencies of E1a and E1f (p less than 0.001). Mental retardation was found to be associated also with presence of Australia antigen and with G-6-PD deficiency. A model to explain these findings has been proposed.
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PMID:Biochemical genetics and mental retardation: a study of hemoglobins, Australia antigen and the enzymes pseudocholinesterase and glucose-6-phosphate dehydrogenase. 727 94