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Glucose-6-phosphate dehydrogenase deficiency

  • 概述
  • 理论
  • 诊断
  • 治疗
  • 随访
  • 资源
最后审阅： 16 Jul 2026
最后更新： 05 Dec 2024

小结

定义

病史和体格检查

关键诊断因素

  • at-risk demographic
  • positive family history
  • history of infection or exposure to oxidative drugs or broad (fava) beans
  • jaundice
  • pallor
  • dark urine
完整详情

其他诊断因素

  • nausea
  • cataract
  • splenomegaly
完整详情

危险因素

  • 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)
完整详情

诊断性检查

首要检查

  • CBC
  • reticulocyte count
  • urinalysis
  • unconjugated (indirect) bilirubin
  • LDH
  • haptoglobin
  • peripheral blood smear
完整详情

需考虑的检查

  • G6PD fluorescent spot test
  • G6PD spectrophotometry
  • molecular analysis
完整详情

新兴检查

  • point of care testing

治疗流程

急症处理

acute hemolysis

neonates with prolonged indirect hyperbilirubinemia

持续性治疗

chronic nonspherocytic hemolytic anemia

撰稿人

作者

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;371:64-74. 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

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

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

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 hemolytic anemia
    • Isoimmune hemolytic anemia: 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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