Glucose-6-phosphate dehydrogenase deficiency

Last updated: March 29, 2023

Summarytoggle arrow icon

Glucose-6-phosphate dehydrogenase (G6PD) deficiency leads to an impaired regeneration of reduced glutathione, an important antioxidant, which makes RBCs more susceptible to oxidative stress and can result in episodic hemolytic anemia. The condition is inherited in an X-linked recessive pattern and is the most common human enzyme deficiency worldwide. It primarily affects males of African, Asian, and Mediterranean descent. G6PD deficiency is usually asymptomatic, but a sudden surge in oxidative stress (e.g., after infection, consumption of fava beans, or various drugs) may lead to a life-threatening hemolytic crisis. Diagnostic findings include signs of intravascular hemolysis (e.g., normocytic anemia, LDH, and haptoglobin), Heinz bodies, and bite cells on blood smear. Management mainly consists of preventing hemolysis by avoiding triggers.

Epidemiologytoggle arrow icon

  • G6PD deficiency is the most common human enzyme deficiency.
  • Prevalence: ∼ 400 million worldwide [1]
  • Affects primarily males of African, Mediterranean, and Asian descent [2]

Epidemiological data refers to the US, unless otherwise specified.

Pathophysiologytoggle arrow icon

Clinical featurestoggle arrow icon

Diagnosticstoggle arrow icon

Ideally, both the screening and confirmatory tests should be performed during remission.

Stress makes me want to bite into some Heinz ketchup: Oxidative stress in patients with G6PD deficiency may lead to the detection of Heinz bodies and bite cells on the peripheral blood smear.

Treatmenttoggle arrow icon

  • Avoid triggers (see “Pathophysiology” above)
  • Blood transfusions should be performed only in rare, severe cases.

Miscellaneoustoggle arrow icon

Referencestoggle arrow icon

  1. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008; 371 (9606): p.64-74.doi: 10.1016/S0140-6736(08)60073-2 . | Open in Read by QxMD
  2. Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician. 2005; 72 (7): p.1277-1282.
  3. Glucose-6-Phosphate Dehydrogenase Deficiency. Updated: January 17, 2017. Accessed: January 21, 2021.
  4. Roth EF, Ruprecht RM, Schulman S, Vanderberg J, Olson JA. Ribose metabolism and nucleic acid synthesis in normal and glucose-6-phosphate dehydrogenase-deficient human erythrocytes infected with Plasmodium falciparum. J Clin Invest. 1986; 77 (4): p.1129-1135.doi: 10.1172/JCI112412 . | Open in Read by QxMD
  5. Longmore M, Wilkinson IB, Davidson EH, Foulkes A, Mafi AR. Oxford Handbook of Clinical Medicine (2010). OUP Oxford ; 2010
  6. Dietel M, Suttorp N, Zeitz M, et al.. Harrisons Innere Medizin (2 Bände). ABW Wissenschaftsverlagsgesellschaft (2005) ; 2005

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