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We evaluated a new point-of-care G6PD screening kit (Care Start G6PD, CSG) against FST using graded Cu Cl treatments to simulate variable hemizygous states, and varying proportions of Cu Cl-treated RBC suspensions to simulate variable heterozygous states of G6PD deficiency.In experiments double-blinded to Cu Cl treatment, technicians reading FST and CSG test (n = 269) classified results as positive or negative for deficiency.Abdominal ultrasound may be useful in assessing for splenomegaly and gallstones.

Heinz bodies (denatured hemoglobin) can be seen on the peripheral smear in G6PD deficiency. Heinz bodies are not revealed by routine staining but are visualized by using a supravital stain (Heinz body prep).Genetic test for individuals at high risk for G6PD deficiency (for initial or time-sensitive screening for G6PD deficiency, refer to phenotyping enzyme assay G6PD / Glucose-6-Phosphate Dehydrogenase [G-6-PD], Quantitative, Erythrocytes) Aiding in the diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping results Differentiation of heterozygous females with skewed X-inactivation from homozygous and compound heterozygous females Definitive diagnosis of carrier status in females Evaluation of neonates (particularly males) with unexplained jaundice Identifying individuals at risk of drug-induced acute hemolytic anemia (AHA) related to G6PD deficiency This test involves full gene sequencing of all exons and intron/exon boundaries of the G6PD gene.A comprehensive interpretation will be provided including congenital and pharmacogenomic implications of results.Cytochemical assays can obviate these shortcomings, but at the expense of added technical complexity and labor.We describe here a simple, novel cytofluorometric method that extends the classic methemoglobin reduction test, assessing G6PD deficiency at the level of an individual erythrocyte.




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