Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency

Gürbüz, Nilgün; Aksu, Tevfik Aslan; Noorden, C. J. F. Van

doi:10.1016/j.acthis.2005.06.008

Cited by 8 publications

(8 citation statements)

References 11 publications

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“…Subjects could, therefore, be included providing their fraction of G6PD normal cells exceeds 50% of their total based on biochemical assays or cytochemical staining. 95 This type of trial has been given ethical approval in the past but a sufficient number of volunteers could not be found. Also, mild druginduced G6PD deficiency-related hemolysis may be difficult to detect or to differentiate from non-G6PD deficiencyrelated hemolysis in controls.…”

Section: Determining the G6pd Deficiency-related Hemolytic Potential mentioning

confidence: 99%

Glucose-6-Phosphate Dehydrogenase Deficiency and Antimalarial Drug Development

Beutler

Duparc²

2007

Am J Trop Med Hyg

185

174

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is relatively common in populations exposed to malaria. This deficiency appears to provide some protection from this infection, but it can also cause hemolysis after administration of some antimalarial drugs, especially primaquine. The risk of drug-induced G6PD deficiency-related hemolysis depends on a number of factors including the G6PD variant, the drug and drug dosage schedule, patient status, and disease factors. Although a great deal is known about the molecular biology of G6PD, determining the potential for drug-induced hemolysis in the clinical setting is still challenging. This report discusses the potential strategies for assessing drug-induced G6PD deficiency-related hemolytic risk preclinically and in early clinical trials. Additionally, the issues important for conducting larger clinical trials in populations in which G6PD deficiency is prevalent are examined, with a particular focus on antimalarial drug development.

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Section: Determining the G6pd Deficiency-related Hemolytic Potential mentioning

confidence: 99%

Glucose-6-Phosphate Dehydrogenase Deficiency and Antimalarial Drug Development

Beutler

Duparc²

2007

Am J Trop Med Hyg

185

174

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“…Cytochemical staining of red blood cells followed by observation with either microscopy or flow cytometry represents the only way to observe the mosaic red blood cell population in heterozygous females 11, 12, 13, 14, 15, 16, 17. Cytofluorometric assays represent an opportunity to determine the relative G6PD activity at the level of the individual red blood cell.…”

Section: Introductionmentioning

confidence: 99%

Cytochemical flow analysis of intracellular G6PD and aggregate analysis of mosaic G6PD expression

Kalnoky

Bancone

Kahn

et al. 2018

European J of Haematology

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BackgroundMedicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose‐6‐phosphate dehydrogenase (G6PD) deficiency. Due to X‐chromosome inactivation, females heterozygous for G6PD with 1 allele encoding a G6PD‐deficient protein and the other a normal protein produce 2 RBC populations each expressing exclusively 1 allele. The G6PD mosaic is not captured with routine G6PD tests.MethodsAn open‐source software tool for G6PD cytofluorometric data interpretation is described. The tool interprets data in terms of % bright RBC, or cells with normal G6PD activity in specimens collected from 2 geographically and ethnically distinct populations, an African American cohort (USA) and a Karen and Burman ethnic cohort (Thailand) comprising 242 specimens including 89 heterozygous females.ResultsThe tool allowed comparison of data across 2 laboratories and both populations. Hemizygous normal or deficient males and homozygous normal or deficient females cluster at narrow % bright cells with mean values of 96%, or 6% (males) and 97%, or 2% (females), respectively. Heterozygous females show a distribution of 10‐85% bright cells and a mean of 50%. The distributions are associated with the severity of the G6PD mutation.ConclusionsConsistent cytofluorometric G6PD analysis facilitates interlaboratory comparison of cellular G6PD profiles and contributes to understanding primaquine‐associated hemolytic risk.

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“…The cytochemical assay is reliable for detection of hemizygously, homozygously, and heterozygouslydeficient patients because it shows G6PD activity in individual erythrocytes (Figure 1; Gurbuz et al 2005). When the percentage of stained and unstained cells has to be determined manually, at least 1000 erythrocytes have to be included in each count to estimate G6PD deficiency.…”

Section: Cytochemical Assaymentioning

confidence: 99%

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

Peters

Noorden

2009

J Histochem Cytochem.

124

121

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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.

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Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency

Cited by 8 publications

References 11 publications

Glucose-6-Phosphate Dehydrogenase Deficiency and Antimalarial Drug Development

Glucose-6-Phosphate Dehydrogenase Deficiency and Antimalarial Drug Development

Cytochemical flow analysis of intracellular G6PD and aggregate analysis of mosaic G6PD expression

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

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