Cytochemical flow analysis of intracellular G6PD and aggregate analysis of mosaic G6PD expression
Title | Cytochemical flow analysis of intracellular G6PD and aggregate analysis of mosaic G6PD expression |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | Kalnoky, M, Bancone, G, Kahn, M, Chu, CS, Chowwiwat, N, Wilaisrisak, P, Pal, S, LaRue, N, Leader, B, Nosten, F, Domingo, GJ |
Journal | Eur J Haematol |
Date Published | Dec 14 |
ISBN Number | 1600-0609 (Electronic)0902-4441 (Linking) |
Keywords | G6PD deficiency, hemolytic anemia, Lyonization, Malaria, Plasmodium vivax |
Abstract | 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 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. 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 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. RESULTS: 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. CONCLUSIONS: Consistent cytoflourometric G6PD analysis facilitates inter-laboratory comparison of cellular G6PD profiles and contributes to understanding primaquine associated hemolytic risk. This article is protected by copyright. All rights reserved. |
URL | https://www.ncbi.nlm.nih.gov/pubmed/29240263 |