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Deficiência de glicose-6-fosfato desidrogenase

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Última revisão das evidências: 24 Sep 2026
Última atualização do tópico: 21 Jun 2023

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presença de fatores de risco
  • icterícia
  • palidez
  • urina escura
Detalhes completos

Outros fatores diagnósticos

  • náuseas
  • catarata
  • esplenomegalia
Detalhes completos

Fatores de risco

  • sexo masculino
  • neonato
  • origem ética no Mediterrâneo, na África Subsaariana, no Oriente Médio ou no Sudeste Asiático
  • história familiar
  • exposição recente a medicamentos oxidativos
  • infecção
  • exposição recente a favas (favismo)
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • Hemograma completo
  • contagem de reticulócitos
  • urinálise
  • bilirrubina (indireta) não conjugada
  • lactato desidrogenase (LDH)
  • haptoglobina
  • esfregaço de sangue periférico
Detalhes completos

Investigações a serem consideradas

  • teste do ponto fluorescente da glicose-6-fosfato desidrogenase (G6PD)
  • espectrofotometria da G6PD
  • análise molecular
Detalhes completos

Novos exames

  • testes laboratoriais remotos

Algoritmo de tratamento

AGUDA

hemólise aguda

neonatos com hiperbilirrubinemia indireta prolongada

CONTÍNUA

anemia hemolítica não esferocítica crônica

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.

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.

References

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.

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 Jan 5;371(9606):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

Reference articles

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

  • Differentials

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    • Anemia hemolítica autoimune
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  • Guidelines

    • 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
    More Guidelines
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