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