An Ashkenazi Jewish woman presenting with favism

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.

Glucose‐6‐phosphate dehydrogenase deficiency: not exclusively in males

“…The inheritance of G6PD deficiency shows a typical X‐linked pattern , in which mainly men are affected, and females, in case being heterozygous, have less severe clinical manifestations . Here, we report two girls with compound heterozygote G6PD deficiency, one of them presented with a severe hemolytic anemia.…”

Neonatal Screening for G6PD, 17-OHP and TSH Levels

“…NADPHmaintains glutathione in the reduced state when erythrocytes aresubjected to an oxidative stress [12]. Low activities of G6PD render redblood cells susceptible to hemolysis under certain conditions such asingestion of fava beans, certain oxidative and anti-malarial drugs,and severe infections like viral hepatitis, pneumonia, and typhoid fever [10] , [13].…”

An Adult Male With Non-Familial Hemolytic Anemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

“…Favizm, G6FD eksikliği görülen hastalarda bakla yenmesinden 24-48 saat sonra ortaya çıkan hemolitik anemi sendromudur. Genellikle 2-5 yaş döneminde görülür ve sıklıkla kendi kendini sınırlar, nadiren ölümcül seyreder (7).Olgumuz ileri yaşta erkek hasta olması, aile öyküsü olmaması ve tedaviye gerektirmeksizin hastalık bulgularının kaybolmasından dolayı sporadik olarak değerlendirildi.…”