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Glucose-6-phosphate dehydrogenase deficiency

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Última revisão: 20 八月 2025
Última atualização: 21 六月 2023

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presence of risk factors
  • jaundice
  • pallor
  • dark urine
Detalhes completos

Outros fatores diagnósticos

  • nausea
  • cataract
  • splenomegaly
Detalhes completos

Fatores de risco

  • 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)
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • FBC
  • reticulocyte count
  • urinalysis
  • unconjugated (indirect) bilirubin
  • lactate dehydrogenase (LDH)
  • haptoglobin
  • peripheral blood smear
Detalhes completos

Investigações a serem consideradas

  • G6PD fluorescent spot test
  • G6PD spectrophotometry
  • molecular analysis
Detalhes completos

Novos exames

  • point of care testing

Algoritmo de tratamento

AGUDA

acute haemolysis

neonates with prolonged indirect hyperbilirubinaemia

CONTÍNUA

chronic non-spherocytic haemolytic anaemia

Colaboradores

Autores

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

利益声明

ABM declares that he has no competing interests.

同行评议者

Lucio Luzzatto, MD

Professor of Hematology

University of Firenze

Florence

Italy

利益声明

LL declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

参考文献

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

关键文献

WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ. 1989;67(6):601-11. 摘要

Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. 摘要

Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev. 2007 Sep;21(5):267-83. 摘要

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.全文  摘要

Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008;371:64-74. 摘要

World Health Organization. Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure. Jul 2018 [internet publication].全文

Luzzatto L, Nannelli C, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93. 摘要

参考文献

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

  • 鉴别诊断

    • Sickle cell disease
    • Autoimmune haemolytic anaemia
    • Isoimmune haemolytic anaemia: for example, ABO incompatibility
    更多 鉴别诊断

  • 指南

    • 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
    更多 指南
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