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Elevated erythrocyte CDP-choline levels associated with beta-thalassaemia in patients with transfusion independent anaemia.

Authors
  • Laurence, A D
  • Layton, M
  • Duley, J A
  • Simmonds, H A
Type
Published Article
Journal
Nucleosides, nucleotides & nucleic acids
Publication Date
Oct 01, 2004
Volume
23
Issue
8-9
Pages
1265–1267
Identifiers
PMID: 15571243
Source
Medline
License
Unknown

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.

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