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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/46915
Title: Cytochemical flow analysis of intracellular G6PD and aggregate analysis of mosaic G6PD expression
Authors: Michael Kalnoky
Germana Bancone
Maria Kahn
Cindy S. Chu
Nongnud Chowwiwat
Pornpimon Wilaisrisak
Sampa Pal
Nicole LaRue
Brandon Leader
Francois Nosten
Gonzalo J. Domingo
PATH Seattle
Mahidol University
Nuffield Department of Clinical Medicine
Keywords: Medicine
Issue Date: 1-Mar-2018
Citation: European Journal of Haematology. Vol.100, No.3 (2018), 294-303
Abstract: © 2017 The Authors. European Journal of Haematology Published by John Wiley & Sons Ltd Background: Medicines 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. Methods: An 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. Results: The 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. Conclusions: Consistent cytofluorometric G6PD analysis facilitates interlaboratory comparison of cellular G6PD profiles and contributes to understanding primaquine-associated hemolytic risk.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85040620936&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/46915
ISSN: 16000609
09024441
Appears in Collections:Scopus 2018

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