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

Roper, David; Layton, Mark; Rees, David C.; Lambert, Chris; Vulliamy, Tom; Dsouza, Carol

doi:10.1111/bjh.16366

Cited by 42 publications

(53 citation statements)

References 44 publications

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“…7,[14][15] This gene has 13 exons and 12 introns, spans 18.5 Kilobases, and has a GC rich promoter region that encodes a product of 1545 bp. 2,16,17 It has a high rate of heterogeneity, and over 300 variants have been found. Only 217 precise mutations, however, are currently known.…”

Section: Geneticsmentioning

confidence: 99%

“…Due to the random nature of this phenomenon, the proportions of deficient variant vary, resulting in a spectrum of symptomology. 16 If the proportion of deficient RBCs is greater than 50% in heterozygous females, they become more susceptible to hemolysis, but with less severity when compared to homozygous deficient females and hemizygous deficient males.…”

Section: Geneticsmentioning

confidence: 99%

“…Neonates with the G6PD mutation also inherit a variant allele for uridine-diphosphate-glucuronosyltransferase 1 (UGT1A1). 16 This mutation is responsible for Gilbert syndrome, where the conjugation of bile and glucuronic acid is impaired, leading to a condition where the levels of bile in the body are very high (i.e., hyperbilirubinemia). Favism is another precipitating disorder in individuals with G6PD deficiency.…”

Section: Clinical Manifestationmentioning

confidence: 99%

“…In addition, neonates exposed to fava beans, through breast milk or passively, can soon develop neonatal jaundice. 16 In males with the rare G6PD sporadic variants with severe deficient function, chronic nonspherocytic hemolytic anemia (CNHSA) is a recognized complication. This occurs when there is a lack of NADPH in the steady state for maintaining the levels of oxidizing agents.…”

Section: Clinical Manifestationmentioning

confidence: 99%

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Glucose-6-phosphate Dehydrogenase Deficiency: A Review

Ravikumar

Greenfield

2020

Int J Med Students

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Deficiency of glucose-6-phosphate dehydrogenase enzyme is a common X-linked disorder that affects humans globally. It was first identified in the 1950s as a disorder that primarily affects the red blood cells causing a myriad of symptoms including acute haemolytic anaemia, neonatal jaundice and chronic nonspherocytic haemolytic anaemia. The deficiency has been extensively studied and especially in the last 5 years there have been improvements in the diagnosis and management. Various methods of diagnosis exist, however recent research focusses on the use of biosensors for more accurate and less time-consuming diagnosis. Guidelines suggest on controlling symptomology as there exists no specific treatment. Neonatal jaundice is a common complication of the disease and research on phototherapy has proved to show some effect in managing this condition. In the last year, protein-protein interactions have been studied and are used as a target to enhance enzyme stability and activity. AG1 is a small molecule activator that has demonstrated effectiveness in treating G6PD deficiency in models. The purpose of this review is to summarize existing literature and potential areas of research on glucose-6-phosphate dehydrogenase deficiency including clinical characteristics, diagnosis and management.

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Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

Section: Clinical Manifestationmentioning

confidence: 99%

Section: Clinical Manifestationmentioning

confidence: 99%

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Glucose-6-phosphate Dehydrogenase Deficiency: A Review

Ravikumar

Greenfield

2020

Int J Med Students

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“…G6PD‐deficient females are most often heterozygotes with unfavourable X‐inactivation (Lyonisation) [2]. Clinical manifestations in affected females depend predominantly on the percentage of G6PD‐deficient erythrocytes, apart from the precise mutant inherited, the intensity and duration of precipitating oxidative stress among a myriad of host/environmental characteristics [3].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of a flow cytometric test for G6PD‐deficient erythrocytes

Kapadia

Sharma

Jain

et al. 2021

Tropical Med Int Health

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Objective Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency, an X‐linked recessive disorder, is the commonest erythrocytic enzymopathy worldwide. Reliable diagnosis and severity prediction in G6PD‐deficient/heterozygous females remain challenging. A recently developed flow cytometric test for G6PD deficiency has shown promise in precisely identifying deficient females. This paper presents our experiences with this test in a subtropical setting and presents a modification in flow cytometric data acquisition strategy. Methods The methaemoglobin reduction + ferryl Hb generation‐based flow cytometric G6PD test was compared with the screening methaemoglobin reduction test (MRT) and confirmatory G6PD enzyme activity assay (EAA) in 20 G6PD‐deficient males, 22 G6PD‐heterozygous/deficient females and 20 controls. Stained cells were also assessed for bright/dim G6PD activity under a fluorescent microscope. Results Flow cytometry separated and quantified %bright cells in heterozygous/deficient females, objectively classifying them into 6 normal (>85% bright cells), 14 intermediate (10‐85%) and two G6PD‐deficient (<10% bright cells). Concordance with MRT was 89% (55/62 cases) and with EAA was 77% (48/62 cases). Fluorometrically predicted violet laser excitation (405‐nm) with signal acquisition in the 425–475 nm region was a technical advancement noted for the first time in this paper. Conclusion Flow cytometry/fluorescence microscopy represent technically straightforward methods for the detection and quantification of G6PD‐deficient erythrocytes. Based on our results, we recommend their application as a first‐line investigation to screen females who are prescribed an oxidant drug like primaquine or dapsone.

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Disorders of red cells and platelets

2021

Blood Cells

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

Cited by 42 publications

References 44 publications

Glucose-6-phosphate Dehydrogenase Deficiency: A Review

Glucose-6-phosphate Dehydrogenase Deficiency: A Review

Evaluation of a flow cytometric test for G6PD‐deficient erythrocytes

Disorders of red cells and platelets

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