Diagnosis of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in the Negro Male Despite Hemolytic Crisis

Abstract

A simple procedure for the diagnosis of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Negro males experiencing hemolytic crisis is described. By measuring enzyme activity in the persisting older erythrocytes, the deficiency can be recognized without having to wait until the hemolytic episode and its reticulocyte response have subsided.

Large Cohort Screening of G6PD Deficiency and the Mutational Spectrum in the Dongguan District in Southern China

“…Female heterozygotes with a defective G6PD variant present a different diagnostic challenge because their blood contains markedly varying proportions of normal and deficient cells [ 19 ]. Traditional screening procedures are robust in detecting the fully developed defect in males, but they fall short in detecting female heterozygotes and patients with relatively mild forms of G6PD deficiency, such as those with the A-variant who are experiencing hemolysis because the level of activity in young erythrocytes is higher than that in more mature cells [ 20 – 21 ]. Therefore, a cheap and reliable test is necessary for diagnosing the deficiency to prevent hemolytic disorders in developing countries.…”

Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline

“…In this situation, examination of a blood film for typical features of oxidant damage is very important and is usually spectacular — almost diagnostic on its own — only if done very promptly, within two days from the onset of the haemolytic episode. If clinically indicated, to avoid delay it is possible to apply a “correction” for the presence of young red cells and reticulocytes by measuring G6PD activity in the heaviest (oldest) red cells after microhaematocrit centrifugation (Herz et al , ). Alternatively, since the activity of several other red‐cell enzymes is similarly affected by the red‐cell age, comparison of their activity to that of G6PD can be undertaken.…”

Glucose‐6‐phosphate dehydrogenase deficiency in dermatology

“…A patient who has recently undergone hemolysis has a relatively young population of red cells. Hence the test can often reveal the enzyme to be falsely adequate in such patients .11 Similar false results can occur in heterozygous women. This often results in continued administration of the drug, only to lead to severe hemolysis later.…”

“…This often results in continued administration of the drug, only to lead to severe hemolysis later. Using the methemoglobin reduction test as a screening test, which is sensitive even in the presence of hemolysis, 11 can prevent this. Quantitative estimation of the enzyme can be carried out in doubtful instances.…”