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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.

Original publication

DOI

10.1111/ejh.13013

Type

Journal article

Journal

Eur J Haematol

Publication Date

03/2018

Volume

100

Pages

294 - 303

Keywords

Plasmodium vivax , G6PD deficiency, hemolytic anemia, lyonization, malaria, African Americans, Alleles, Antimalarials, Asian Continental Ancestry Group, Case-Control Studies, Contraindications, Drug, Erythrocytes, Female, Flow Cytometry, Gene Expression Regulation, Glucosephosphate Dehydrogenase, Glucosephosphate Dehydrogenase Deficiency, Hemizygote, Heterozygote, Humans, Male, Mosaicism, Mutation, Primaquine, Severity of Illness Index, Software, Thailand, United States