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An Ashkenazi Jewish woman presenting with favism.
- 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