What is G6PD deficiency?
An enzymatic defect in red blood cells.
Symptoms
Hemolysis, neonatal jaundice, fatigue and anemia after exposure to triggers.
Genetic causes
Mutations in the G6PD gene.
Inheritance pattern
X-linked.
Important genes
G6PD.
Who should be tested?
Neonates with jaundice and individuals with hemolysis after fava beans or oxidant drugs.
Recommended tests
G6PD activity assay and sequencing if needed.
Counseling
Inform family and avoid triggering medications/foods.