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