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JHC exPRESS: First Published June 22, 2009. doi:10.1369/jhc.2009.953828
Journal of Histochemistry and Cytochemistry
Copyright © 2009 Peters & Van Noorden

A more recent version of this article appeared on November 1, 2009.
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Articles

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

Anna L. Peters 1 and Cornelis J.F. Van Noorden 1*

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

* To whom correspondence should be addressed. E-mail: j.vannoorden{at}amc.uva.nl.

Submitted on March 2, 2009
Accepted on 3 June 2009


  Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder of the erythrocyte that affects 400 million people world wide. Diagnosis of heterozygous 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 heterozygous deficient women and non-deficient women or homozygous-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 cheap 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 its use in developing countries.

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


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