An Ashkenazi Jewish woman presenting with favism.
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.
Lim
F
F
Department of Haematology, St Mary's Hospital, Praed Street, London W2 1NY, UK.
Vulliamy
T
T
Abdalla
S H
SH
D000328:Adult; D005189:False Positive Reactions; D005236:Favism / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D006801:Humans; D007585:Jews
D005954:Glucosephosphate Dehydrogenase
Nature. 1964 May 9;202:606-7
14195075
World Health Organ Tech Rep Ser. 1967;366:1-53
4963040
Biomed Biochim Acta. 1983;42(11-12):S247-52
6675698
Br J Haematol. 1986 Oct;64(2):407-9
3778831
Br J Haematol. 1989 Jul;72(3):445-51
2527553
Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):21-38
10916676
J Clin Invest. 1968 Apr;47(4):940-8
5641629
J Pediatr. 1995 Nov;127(5):807-8
7472841