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Case Reports
. 2016 Oct 24;4(12):1135-1137.
doi: 10.1002/ccr3.714. eCollection 2016 Dec.

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

Leonie van den Broek  1 , Evelien Heylen  2 , Machiel van den Akker  3
Affiliations
Case Reports

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

Leonie van den Broek et al. Clin Case Rep. .

Abstract

Glucose-6-phosphate (G6PD) deficiency is the most common human enzyme defect, often presenting with neonatal jaundice and/or acute hemolytic anemia, triggered by oxidizing agents. G6PD deficiency is an X-linked, hereditary disease, mainly affecting men, but should also be considered in females with an oxidative hemolysis.

Keywords: Acute hemolytic anemia; Glucose‐6‐phosphate deficiency; X‐linked inheritance.

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Figures

Figure 1
Figure 1
Family tree. DNA analysis was performed. Father: G6PD Mediterranean variant (c.563C>T (p.Ser188Phe)) in hemizygosity. Mother: G6PD Chatham variant (c.1003G>A (p.Ala335Thr)) in heterozygosity. Both girls had both mutations in compound heterozygosity.
Figure 2
Figure 2
Bite cells, often seen during a hemolytic crisis in G6PD deficiency.
See this image and copyright information in PMC

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