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
Other diagnostic factors
- nausea
- cataract
- splenomegaly
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)
Diagnostic tests
1st tests to order
- CBC
- reticulocyte count
- urinalysis
- unconjugated (indirect) bilirubin
- LDH
- haptoglobin
- peripheral blood smear
Tests to consider
- G6PD fluorescent spot test
- G6PD spectrophotometry
- molecular analysis
Emerging tests
- point of care testing
Treatment algorithm
acute hemolysis
neonates with prolonged indirect hyperbilirubinemia
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.
References
Key articles
WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67(6):601-11. Abstract
Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74. Abstract
Roper D, Layton M, Rees D, et al. Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline. Br J Haematol. 2020 Apr;189(1):24-38.Full text Abstract
Luzzatto L, Nannelli C, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93. Abstract
World Health Organization. Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure. Jul 2018 [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Sickle cell disease
- Autoimmune hemolytic anemia
- Isoimmune hemolytic anemia: for example, ABO incompatibility
More DifferentialsGuidelines
- Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation
- Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline
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