Learning objectives

• Describe glucose-6-phosphate dehydrogenase or G6PD deficiency
• Management of G6PD deficiency

Definition and mechanisms

• G6PD deficiency is the most common inherited metabolic disorder of red blood cells (RBCs)
• A genetic X-linked recessive disorder characterized by a lack of G6PD in the blood
• Caused by mutations in the G6DP gene
• GD6P protects red blood cells from reactive oxygen species
• Can cause hemolytic anemia as RBCs are vulnerable to hemolysis
• 400 million people are globally affected and males are affected more often than females
  • Particularly common in certain parts of Africa, Asia, the Mediterranean area, and the Middle East
• Affected persons must avoid dietary triggers such as fava beans
• A spectrum of disease: chronic hemolysis, intermittent hemolysis, hemolysis only with triggers, no hemolysis

Signs and symptoms

Most individuals with G6PD deficiency are asymptomatic

• Pale skin
• Jaundice
• Dark-colored urine
• Fever
• Weakness
• Dizziness
• Confusion
• Trouble with physical activity
• Enlarged spleen and liver
• Increased heart rate
• Heart murmur

Triggers

• Foods: fava beans
• Medicines: aspirin, quinine, and other antimalarials derived from quinine
• Mothballs (naphthalene)
• bacterial and viral infections

Diagnosis

• Complete blood count and reticulocyte count: Heinz bodies can be seen in red blood cells
• Liver enzymes: to exclude other causes of jaundice
• Lactate dehydrogenase: elevated in hemolysis
• Haptoglobin: decreased in hemolysis
• A direct antiglobulin test (Coombs’ test): should be negative as hemolysis in G6DP is not immune-mediated

Management 

Suggested reading

• Cicvarić, A., Glavaš Tahtler, J., Vukoja Vukušić, T., Bekavac, I., Kvolik, S., 2022. Management of Anesthesia and Perioperative Procedures in a Child with Glucose-6-Phosphate Dehydrogenase Deficiency. Journal of Clinical Medicine 11, 6476.
• Goi T, Shionoya Y, Sunada K, Nakamura K. General Anesthesia in a Glucose-6-Phosphate Dehydrogenase Deficiency Child: A Case Report. Anesth Prog. 2019;66(2):94-96.
• Pollard BJ, Kitchen, G. Handbook of Clinical Anaesthesia. Fourth Edition. CRC Press. 2018. 978-1-4987-6289-2.
• Valiaveedan S, Mahajan C, Rath GP, Bindra A, Marda MK. Anaesthetic management in patients with glucose-6-phosphate dehydrogenase deficiency undergoing neurosurgical procedures. Indian J Anaesth. 2011;55(1):68-70.