P498: G6PD deficiency: A 'hidden' diagnosis beyond pharmacogenomics

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Authors: Ramiah R. Vickers, Sarah H. Elsea
Cited by: 0

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy affecting approximately 500 million people worldwide. Deficiency of G6PD results in oxidative damage to red blood cells causing several clinical manifestations including acute hemolytic anemia, neonatal jaundice, and in more severe cases, chronic non-spherocytic hemolytic anemia. In most individuals, an oxidant agent, such as infection, certain foods or medication, is necessary to induce acute hemolysis. Chronically, G6PD deficient individuals have been found to be at an increased risk for diabetes, atherosclerotic cardiovascular disease, chronic kidney disease, and infection.

Fields of Study & Subjects

Neonatal Health and Biochemistry Hemoglobinopathies and Related Disorders Methemoglobinemia and Tumor Lysis Syndrome

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103990–103990
Publication date
1 January 2026
Language
EN