Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification

Author:

Nannelli Caterina12,Bosman Andrea3,Cunningham Jane3,Dugué Pierre‐Antoine456,Luzzatto Lucio17ORCID

Affiliation:

1. University of Florence Florence Italy

2. Istituto per lo Studio, la Prevenzione e la Rete Oncologica, Core Research Laboratory Florence Italy

3. World Health Organisation, Global Malaria Programme Geneva Switzerland

4. School of Clinical Sciences at Monash Health Monash University Clayton Victoria Australia

5. Cancer Council Victoria Melbourne Victoria Australia

6. Melbourne School of Population and Global Health The University of Melbourne Parkville Victoria Australia

7. Muhimbili University of Health and Allied Sciences Dar‐es‐Salaam Tanzania

Abstract

SummaryGlucose‐6‐phosphate dehydrogenase (G6PD) deficiency in erythrocytes causes acute haemolytic anaemia upon exposure to fava beans, drugs, or infection; and it predisposes to neonatal jaundice. The polymorphism of the X‐linked G6PD gene has been studied extensively: allele frequencies of up to 25% of different G6PD deficient variants are known in many populations; variants that cause chronic non‐spherocytic haemolytic anaemia (CNSHA) are instead all rare. WHO recommends G6PD testing to guide 8‐aminoquinolines administration to prevent relapse of Plasmodium vivax infection. From a literature review focused on polymorphic G6PD variants we have retrieved G6PD activity values of 2291 males, and for the mean residual red cell G6PD activity of 16 common variants we have obtained reliable estimates, that range from 1.9% to 33%. There is variation in different datasets: for most variants most G6PD deficient males have a G6PD activity below 30% of normal. There is a direct relationship between residual G6PD activity and substrate affinity (KmG6P), suggesting a mechanism whereby polymorphic G6PD deficient variants do not entail CNSHA. Extensive overlap in G6PD activity values of individuals with different variants, and no clustering of mean values above or below 10% support the merger of class II and class III variants.

Publisher

Wiley

Subject

Hematology

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