G6PD Deficiency and Testing

HORIBA Medical offers the expanded chemistry assay menu to its customers with the addition of POINTE brand. One of those assays which is unique for clinical chemistry analyzers is POINTE Glucose-6-Phosphate Dehydrogenase (G6PD).

G6PD Deficiency

G6PD image

G6PD image

Glucose-6-Phosphate dehydrogenase (G6PD) is an enzyme that is critical to preventing cellular damage from reactive oxygen species. G6PD Deficiency is the most common known human enzyme defect, impacting more than 500 million people globally.1

G6PD is an X-linked mutation, and therefore genetic males are more commonly affected by the disease than genetic females. Hemizygous, Homozygous, and heterozygous individuals can all show different levels of severity.

 

G6PD Deficiency and Malaria

There is research that suggests individuals with G6PD Deficiency have some protection from malaria, which may explain its high prevalence among people of African, Mediterranean, and Asian descent as well as within tropical and subtropical regions.2

G6PD Deficiency Test

There are several important reasons to test for G6PD deficiency, primarily to avoid exposure to the many potential triggers that may cause hemolytic crisis in affected individuals:

  • Understanding the level of severity prior to and during medical therapies, such as chemotherapy, to eliminate the risk of severe adverse reactions
  • An individual’s G6PD activity may shift throughout their life making it important to know their current level of severity in order to maintain a healthy lifestyle.3
  • Early diagnosis of G6PD deficiency in newborns enables healthcare professionals to educate parents on which triggers to avoid that may cause a hemolytic crisis.4
  • Performing G6PD screenings on military personnel eliminates the risk of adverse reactions from common anti-malaria drugs such as Primaquine, Chloroquine and its derivatives5

In January 2022, the World Health Organization (WHO) released revised suggested classification for assessing the G6PD variants. This update comes after a literature review conducted on studies published over a span of more than fifty years.

Table 1: Classification of G6PD Variants from World Health Organization (WHO)1
Class 1Units per Gram of Hemoglobin
(U/g Hb)*
G6PD Activity
(% of Normal)
Level of Severity
A<2.42<20%Chronic (CNSHA)
B<5.45<45%Acute, triggered
C7.26-18.1560-150%No hemolysis
UAnyAnyUncertain Clinical Significance

*Based on reference range of POINTE G6PD Reagent Set

POINTE G6PD Assay by HORIBA Medical

POINTE_G6PD_Clinical_Chemistry_Reagent_HORIBA_Medical

The POINTE Glucose-6-Phosphate Dehydrogenase assay provides a quantitative determination of G6PD activity in blood. Activity units are reported relative to the hemoglobin concentration in the blood, in activity units/gram Hemoglobin.

The POINTE G6PD Reagent Set can be applied to a variety of clinical chemistry analyzers, including the Pentra C400, Yumizen C230, Yumizen C240, and Yumizen C560. The sample preparation includes only a single 5 minute lyse step and can even be automated on some systems.

 

For more about HORIBA POINTE clinical chemistry reagent brand, click here.

References

1. WHO REFERENCE NUMBER: WHO/UCN/GMP/MPAG/2022.01
2. Richardson SR, O'Malley GF. Glucose 6 Phosphate Dehydrogenase Deficiency. [Updated 2022 Sep 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470315/
3. Bubp, Jeff. “Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)–Deficient Patients: Implications for Pharmacy.” P&T, vol. 40, no. 9, Sept. 2015, pp. 572–574.
4. Frank, Jennifer. “Diagnosis and Management of G6PD Deficiency.” American Family Physician, vol. 72, no. 7, 1 Oct. 2005, pp. 1277–1282
5. Murray, Clinton. “Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency in U.S. Army Personnel.” Military Medicine, vol. 171, Sept. 2006, pp. 905–907.R

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