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An Ashkenazi Jewish woman presenting with favism.

Authors :
Lim F
Vulliamy T
Abdalla SH
Source :
Journal of clinical pathology [J Clin Pathol] 2005 Mar; Vol. 58 (3), pp. 317-9.
Publication Year :
2005

Abstract

The case of a 44 year old Ashkenazi Jewish woman of Russian origin who presented with a typical clinical and haematological picture of favism is reported. There was initial difficulty in confirming glucose-6-phosphate dehydrogenase (G6PD) deficiency because the enzyme concentrations were normal at presentation, but later fell to a concentration compatible with heterozygosity for the Mediterranean type of G6PD deficiency. The diagnosis was also later confirmed by gene analysis. The reasons for the difficulties in the initial confirmation of the diagnosis and the normal G6PD enzyme activity at presentation are discussed.

Details

Language :
English
ISSN :
0021-9746
Volume :
58
Issue :
3
Database :
MEDLINE
Journal :
Journal of clinical pathology
Publication Type :
Academic Journal
Accession number :
15735168
Full Text :
https://doi.org/10.1136/jcp.2004.017426