title: Elevated erythrocyte CDP-choline levels associated with beta-thalassaemia in patients with transfusion independent anaemia.
abstract: The accumulation of CDP-ethanolamine as well as CDP-choline in a small cohort of patients with normal UMPH1 and no defined cause for their anaemia suggested a defect in both phosphotransferases. Here we report 10 patients with transfusion independent beta-thalassaemia; 8 being pure heterozygotes and 2 heterozygotes also for Hb E. Mean CDP-choline (86.xxx +/- 48 microM) and CDP-ethanolamine (34.6 microM +/- 34.5 microM), mean control <3 microM. Elevated CDP-choline in patients with no defined cause for their haemolytic anaemia was previously suggested as a possible indicator of CDP-choline phosphotransferase deficiency. Here we associate it with transfusion independent beta-thalassaemia.
authors.affiliation: University College, London, UK.
authors.forename: A D
authors.initials: AD
authors.lastname: Laurence
authors.forename: M
authors.initials: M
authors.lastname: Layton
authors.forename: J A
authors.initials: JA
authors.lastname: Duley
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
mesh_terms: D000740:Anemia / Q000378:metabolism*; D001803:Blood Transfusion; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D003565:Cytidine Diphosphate / Q000031:analogs & derivatives* / Q000097:blood; D003566:Cytidine Diphosphate Choline / Q000097:blood* / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism*; D004983:Ethanolamines / Q000097:blood; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017086:beta-Thalassemia / Q000097:blood* / Q000378:metabolism
chemical_list: D004983:Ethanolamines; C006933:CDP ethanolamine; D003566:Cytidine Diphosphate Choline; D003565:Cytidine Diphosphate