The genetic basis of the interaction between pyrimidine 5 ' nucleotidase I deficiency and hemoglobin E

Escuredo, E., Marinaki, A. M., Duley, J. A., Thein, S. L. and Rees, D. C. (2004) The genetic basis of the interaction between pyrimidine 5 ' nucleotidase I deficiency and hemoglobin E. Nucleosides Nucleotides & Nucleic Acids, 23 8-9: 1261-1263. doi:10.1081/NCN-200027532


Author Escuredo, E.
Marinaki, A. M.
Duley, J. A.
Thein, S. L.
Rees, D. C.
Title The genetic basis of the interaction between pyrimidine 5 ' nucleotidase I deficiency and hemoglobin E
Journal name Nucleosides Nucleotides & Nucleic Acids   Check publisher's open access policy
ISSN 1525-7770
Publication date 2004
Sub-type Article (original research)
DOI 10.1081/NCN-200027532
Volume 23
Issue 8-9
Start page 1261
End page 1263
Total pages 3
Place of publication New York, N.Y. U.S.A.
Publisher Marcel Dekker Inc
Language eng
Subject 1115 Pharmacology and Pharmaceutical Sciences
Abstract We have previously described a family in which the interaction between pyrimidine 5' nucleotidase I (P5N-I) deficiency and hemoglobin E resulted in severe haemolytic anaemia. In this study we explored the genetic basis of the severe clinical phenotype and look for evidence of the interaction between these conditions. A P5N-I gene mutation (IVS8 + 1-2delGT) was found in the family, confirming that the severe phenotype results from the interaction between two genetic diseases.
Keyword Biochemistry & Molecular Biology
pyrimidine metabolism
pyrimidine 5 ' nucleotidase (P5N-I)
uridine monophosphate hydrolase I
haemolytic anaemia
hemoglobin E
beta-thalassaemia
5'-nucleotidase Deficiency
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Pharmacy Publications
 
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Created: Fri, 25 Jan 2008, 16:23:55 EST