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

@article{Roper2020LaboratoryDO,
  title={Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline},
  author={David Roper and Mark Layton and David C. Rees and C. Lambert and Tom Vulliamy and Barbara De la Salle and Clifford Clark D'Souza},
  journal={British Journal of Haematology},
  year={2020},
  volume={189}
}
In addition to the authors’ comprehensive databases, a specific literature review was conducted on 18th April 2017 on the following databases: MEDLINE (OVID), EMBASE (OVID), CENTRAL (The Cochrane library) and Web of Science (SCI-Expanded, CPCI-S) using the search terms: G6PD activity in heterozygous beta thalassaemia, G6PD activity in reticulocytes, Glock and McLean assay procedure, Leukocyte G6PD activity, Molecular characterization of G6PD variants, “Correction” for the presence of young red… 
A case of G6PD Utrecht associated with β‐thalassemia responding to splenectomy
TLDR
Because IVS‐Ⅱ‐654 C>T on its own does not cause CNSHA, it is believed that the clinical manifestations in this patient are essentially due to the G6PD c.1225C>T mutation.
Reference and point-of-care testing for G6PD deficiency: Blood disorder interference, contrived specimens, and fingerstick equivalence and precision
Certain clinical indications and treatments such as the use of rasburicase in cancer therapy and 8-aminoquinolines for Plasmodium vivax malaria treatment would benefit from a point-of-care test for
Hemolysis After Medication Exposure in Pediatric Patients With G6PD Deficiency
TLDR
Correlation of levels with mutation may improve predictive capacity for hemolysis in G6PD deficiency and reduce the risk of postexposure medication-induced hemolytic events.
Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues
TLDR
The clinical management of severe CHAs presenting early on in the neonatal period is discussed, and an overview of the most common conditions, such as glucose-6-phosphate dehydrogenase deficiency, pyruvate kinases deficiency, and hereditary spherocytosis are provided.
Evaluation of a point-of-care diagnostic to identify glucose-6-phosphate dehydrogenase deficiency in Brazil
TLDR
The STANDARD G 6PD Test is a promising tool to aid in POC detection of G6PD deficiency in Brazil and performed equivalently in determining G6 PD status in venous and capillary specimens under varied operating temperatures.
Real-life implementation of a G6PD deficiency screening qualitative test into routine vivax malaria diagnostic units in the Brazilian Amazon (SAFEPRIM study)
TLDR
G6PD screening using the qualitative CareStart G6PD test performed by HCPs in MTUs of an endemic area showed high sensitivity and concerning low specificity, which led to substantial loss of opportunities for radical cure.
Hemolytic Anemia in Females: An Unexpected Cause
TLDR
A five-year-old girl, who had severe hemolytic anemia after fava beans ingestion and an infectious insult, is presented, Investigations revealed G6PD deficiency associated with a genetic Avariant, which was also present in both her father and brother.
Tafenoquine for the treatment of Plasmodium vivax malaria
TLDR
The authors discuss the potential for TFQ, complemented with primaquine PQ and effective screening for G6PDd, to improve P. vivax clinical management and facilitate targeted mass drug administration in communities to decrease transmission.
Glucose‐6‐phosphate dehydrogenase deficiency‐associated hemolysis and methemoglobinemia in a COVID‐19 patient treated with chloroquine
TLDR
This data indicates that rapid and severe Covid-19 pneumonia with severe acute chest syndrome in a sickle cell patient successfully treated with tocilizumab could be an effective treatment for severe COVID-19.
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References

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G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications
TLDR
How G6PD testing can be done reconciling safety with cost is discussed, as more countries are moving along the pathway of malaria elimination, that might require mass administration of primaquine.
Neonatal nucleated red blood cells in G6PD deficiency.
TLDR
The hypothesis that hematocrit and hemoglobin would be lower, and absolute nucleated RBC counts higher, in the G6PD deficient and that these changes would be more prominent in infants exposed passively to fava bean through maternal diet is tested.
International Committee for Standardization in Haematology: Recommended Methods for Red‐Cell Enzyme Analysis *
TLDR
An expert panel to examine the technical problems involved in the performance of redcell enzyme assays concluded that the development of ‘recommended methods’ for the assaying of red-cell enzymes would be useful primarily in two ways: they will provide laboratories not now performing red- cell enzyme Assays with reliable, convenient, and extensively tested techniques; and they will provided a means by which different laboratories can compare their results.
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia
TLDR
Repeated findings of the same mutations suggests that a limited number of amino acid changes can produce the CNSHA phenotype and be compatible with normal development.
Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion).
TLDR
The Experion system resulted as a valid, easy, and reproducible diagnostic method for the screening of G6PD mutation as compared with the agarose electrophoretic analysis, and was more accurate than that obtained by gel electrophoresis.
International Committee for Standardization in Haematology: Recommended Screening Test for Glucose‐6‐Phosphate Dehydrogenase (G‐6‐PD) Deficiency
TLDR
For most clinical purposes and for population surveys, quantitative measurement of G-6-PD deficiency will provide the required information and the one which is recommended as the most generally useful and reliable is the fluorescent spot test.
Development of a new software tool and analysis method to improve determination of G6PD status
TLDR
The G6PD classification method was enhanced by analyzing data from the cytofluorimetric assay with a software tool developed at PATH, and this software tool not only mitigates for variations in measurements generated by different flow cytometers, but also implements a metric for a more quantitative interpretation of cytochemical staining results.
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TLDR
Mothballs are used for previously unrecognized reasons and can pose a hematologic threat to vulnerable populations, according to the rationale for naphthalene-containing moth repellent (mothball) use.
An audit of the precipitating factors for haemolytic crisis among glucose-6-phosphate dehydrogenase-deficient paediatric patients
TLDR
Fava bean ingestion is the major precipitating factor for haemolytic anaemia episodes among G6PD-deficient children in Jordan.
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