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Originally published as JHC exPRESS on June 22, 2009.
doi:10.1369/jhc.2009.953828
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Journal of Histochemistry and Cytochemistry
Volume 57 (11): 1003-1011, 2009
Copyright ©The Histochemical Society, Inc.

Glucose-6-phosphate Dehydrogenase Deficiency and Malaria: Cytochemical Detection of Heterozygous G6PD Deficiency in Women

Anna L. Peters and Cornelis J.F. Van Noorden

Academic Medical Center, Department of Cell Biology and Histology, University of Amsterdam, Amsterdam, The Netherlands

Correspondence to: Cornelis J.F. Van Noorden, Academic Medical Center, Room L3-111, Meibergdreef 15, 1105 AZ, Amsterdam. E-mail: c.j.vannoorden{at}amc.uva.nl

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder of the erythrocyte that affects 400 million people worldwide. Diagnosis of heterozygously-deficient women is complicated: as a result of lyonization, these women have a normal and a G6PD-deficient population of erythrocytes. The cytochemical assay is the only reliable assay to discriminate between heterozygously-deficient women and non-deficient women or homozygously-deficient women. G6PD deficiency is mainly found in areas where malaria is or has been endemic. In these areas, malaria is treated with drugs that can cause (severe) hemolysis in G6PD-deficient individuals. A cheap and reliable test is necessary for diagnosing the deficiency to prevent hemolytic disorders when treating malaria. In this review, it is concluded that the use of two different tests for diagnosing men and women is the ideal approach to detect G6PD deficiency. The fluorescent spot test is inexpensive and easy to perform but only reliable for discriminating hemizygous G6PD-deficient men from non-deficient men. For women, the cytochemical assay is recommended. However, this assay is more expensive and difficult to perform and should be simplified into a kit for use in developing countries. (J Histochem Cytochem 57:1003–1011, 2009)

Key Words: glucose-6-phosphate dehydrogenase • heterozygote • deficiency • diagnosis • malaria • primaquine • cytochemical assay


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