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

Abstract excerpt

Summary Glucose‐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...