| Summary: | <h4>Background</h4> <p>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 one allele encoding a G6PD deficient protein and the other a normal protein produce two RBC populations each expressing exclusively one allele. The G6PD mosaic is not captured with routine G6PD tests.</p> <h4>Methods</h4> <p>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 two geographically and ethnically distinct populations, an African-American cohort (US), and a Karen and Burman ethnic cohort (Thailand) comprising 242 specimens including 89 heterozygous females.</p> <h4>Results</h4> <p>The tool allowed comparison of data across two 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 to severity of the G6PD mutation.</p> <h4>Conclusions</h4> <p>Consistent cytoflourometric G6PD analysis facilitates inter-laboratory comparison of cellular G6PD profiles and contributes to understanding primaquine associated hemolytic risk.</p>
|
|---|