Glucose-6-phosphate dehydrogenase deficiency

Last reviewed: 24 Apr 2022
Last updated: 07 Apr 2022

Summary

Definition

History and exam

Key diagnostic factors

  • at-risk demographic
  • positive family history
  • history of infection or exposure to oxidative drugs or broad (fava) beans
  • jaundice
  • pallor
  • dark urine
More key diagnostic factors

Other diagnostic factors

  • nausea
  • cataract
  • splenomegaly
Other diagnostic factors

Risk factors

  • male sex
  • neonate
  • ethnic origin in the Mediterranean, sub-Saharan Africa, Middle East, or Southeast Asia
  • family history
  • recent exposure to oxidative drugs
  • infection
  • recent exposure to broad beans (favism)
More risk factors

Diagnostic investigations

1st investigations to order

  • CBC
  • reticulocyte count
  • urinalysis
  • unconjugated (indirect) bilirubin
  • LDH
  • haptoglobin
  • peripheral blood smear
More 1st investigations to order

Investigations to consider

  • G6PD fluorescent spot test
  • G6PD spectrophotometry
  • molecular analysis
More investigations to consider

Emerging tests

  • point of care testing

Treatment algorithm

ACUTE

acute hemolysis

neonates with prolonged indirect hyperbilirubinemia

ONGOING

chronic nonspherocytic hemolytic anemia

Contributors

Authors

Atul Bhanu Mehta, MA, MD, FRCP, FRCPath

Professor of Haematology and Consultant Haematologist

Royal Free Hospital and University College London School of Medicine

London

UK

Disclosures

ABM declares that he has no competing interests.

Peer reviewers

Lucio Luzzatto, MD

Professor of Hematology

University of Firenze

Florence

Italy

Disclosures

LL declares that he has no competing interests.

  • Differentials

    • Sickle cell disease
    • Autoimmune hemolytic anemia
    • Isoimmune hemolytic anemia: for example, ABO incompatibility
    More Differentials
  • Guidelines

    • Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline
    • Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure
    More Guidelines
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