Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Total proteins and red cell membrane spectrin were determined in normal subjects, patients with hyperhaemolytic and anhaemolytic thalassaemia, and Hb Lepore from a single family. Electrophoresis on acrylamide gels was performed after solubilisation of the material in SDS using the whole membrane and spectrin. Amino acid composition was also determined after hot acid hydrolysis. Resin chromatography was employed to recognise acid, neutral and basic aminoo acids, glucosamine, and galactosamine. It was found that the significant changes in spectrin amino acid composition observed in thalassaemic subjects with peripheral hyperhaemolysis were not apparent in anhaemolytic patients, nor in the heterozygote, clinically asymptomatic carriers of Hb Lepore. These changes are certainly of importance on account of the structural alterations noted in the spectrin of the subjects concerned.
 ...
PMID:[Analysis of erythrocytic spectrin in thalassemia and in Lepore hemoglobinosis]. 710 13

The rate of incorporation of glucosamine into the glycoprotein of reticulocyte stroma is greatly increased in thalassemia. This increase suggests a major enzymic disorder in the buildup of cellular membrane and reconciles the accumulation of material showing a positive reaction with periodic acid Schiff reagent with the clinical picture of oligocythemia and microcytosis.
 ...
PMID:GLYCOPROTEIN BIOSYNTHESIS IN HUMAN RETICULOCYTES: A LESION IN THALASSEMIA. 1424 67