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Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females.

Authors
  • Peters, Anna L1
  • Veldthuis, Martijn2
  • van Leeuwen, Karin2
  • Bossuyt, Patrick M M3
  • Vlaar, Alexander P J1
  • van Bruggen, Robin2
  • de Korte, Dirk2
  • Van Noorden, Cornelis J F4
  • van Zwieten, Rob2
  • 1 Department of Intensive Care, Academic Medical Centre, Amsterdam, The Netherlands. , (Netherlands)
  • 2 Department of Blood Cell Research, Sanquin Amsterdam, Amsterdam, The Netherlands. , (Netherlands)
  • 3 Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, Amsterdam, The Netherlands. , (Netherlands)
  • 4 Department of Medical Biology, Academic Medical Centre, Amsterdam, The Netherlands. , (Netherlands)
Type
Published Article
Journal
Journal of Histochemistry & Cytochemistry
Publisher
SAGE Publications
Publication Date
Nov 01, 2017
Volume
65
Issue
11
Pages
627–636
Identifiers
DOI: 10.1369/0022155417730021
PMID: 28902532
Source
Medline
Keywords
License
Unknown

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide. Detection of heterozygously deficient females can be difficult as residual activity in G6PD-sufficient red blood cells (RBCs) can mask deficiency. In this study, we compared accuracy of 4 methods for detection of G6PD deficiency in females. Blood samples from females more than 3 months of age were used for spectrophotometric measurement of G6PD activity and for determination of the percentage G6PD-negative RBCs by cytofluorometry. An additional sample from females suspected to have G6PD deficiency based on the spectrophotometric G6PD activity was used for measuring chromate inhibition and sequencing of the G6PD gene. Of 165 included females, 114 were suspected to have heterozygous deficiency. From 75 females, an extra sample was obtained. In this group, mutation analysis detected 27 heterozygously deficient females. The sensitivity of spectrophotometry, cytofluorometry, and chromate inhibition was calculated to be 0.52 (confidence interval [CI]: 0.32-0.71), 0.85 (CI: 0.66-0.96), and 0.96 (CI: 0.71-1.00, respectively, and the specificity was 1.00 (CI: 0.93-1.00), 0.88 (CI: 0.75-0.95), and 0.98 (CI: 0.89-1.00), respectively. Heterozygously G6PD-deficient females with a larger percentage of G6PD-sufficient RBCs are missed by routine methods measuring total G6PD activity. However, the majority of these females can be detected with both chromate inhibition and cytofluorometry.

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