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Key messages

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is more common in African, Middle Eastern, Asian and some Mediterranean populations.
  • Newborn infants with immature and deficient enzyme pathways are at greater risk of developing haemolytic anaemia than adults.
  • Educate parents about G6PD deficiency and how to avoid the triggers (especially mothballs).

Please note that all guidance is currently under review and some may be out of date. We recommend that you also refer to more contemporaneous evidence in the interim.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder which causes haemolysis (premature breakdown of red blood cells).

Key points about G6PD enzyme

Key points about the G6PD enzyme:

  • It is a cytoplasmic enzyme in the hexose monophosphate pathway responsible for the production of glutathione. It helps to protect the red blood cell from oxidative damage.
  • The G6PD gene lies on the X chromosome and over 300 mutations have been described.
  • G6PD deficiency is a common X-linked recessive genetic disorder
  • It affects:
    • 1:50 southeast Asians
    • 1:10 Mediterranean families (Italian, Greek and Middle Eastern)
    • 1:10 African- American males
  • Because of the high gene frequency in some regions, homozygous affected females are not uncommon.
  • Females may also be affected through lyonisation or if they have Turner’s syndrome.

Clinical disorders related to G6PD

There are three major clinical disorders caused by G6PD deficiency :

  • neonatal hyperbilirubinaemia
  • chronic haemolytic anaemia
  • induced haemolytic anaemia triggered by exposure to:
    • naphthalene (mothballs)
    • sulphonamides 
    • nitrofurans 
    • aspirin 
    • fava (broad) beans
    • viral infections.

Symptoms of G6PD deficiency

Symptoms may include:

  • dark coloured urine
  • splenomegaly
  • fatigue
  • pallor
  • tachycardia
  • shortness of breath.

However, neonates usually present with jaundice in the absence of anaemia.

Jaundice can be severe and result in kernicterus.

Differential diagnosis of G6PD deficiency

Causes of haemolytic anaemia

Haemolytic anaemia may be caused by:

  • maternal-fetal blood group incompatibilities:
    • rhesus isoimmunisation
    • ABO incompatibility
  • other red cell enzyme deficiencies (such as pyruvate kinase)
  • red cell membrane disorders (such as hereditary spherocytosis).
  • disorders of haemoglobin synthesis (such as alpha thalassaemia group of disorders).

G6PD deficiency should be considered in infants with history of jaundice, anaemia and splenomegaly, especially in those of African or Mediterranean ancestry.

Investigation of G6PD deficiency

Findings that suggest the need for further investigation include:

  • unconjugated hyperbilirubinaemia
  • Heinz bodies noted on FBE
  • increased reticulocyte count
  • negative direct anti-globulin titre (Coombs) test.

Diagnosis of G6PD deficiency

G6PD screen then assay.

Management of G6PD deficiency

Management involves:

  • avoiding oxidative stressors
  • rarely anaemia may be severe enough to warrant blood transfusion
  • treating hyperbilirubinaemia with:
    • phototherapy
    • exchange transfusion may be required at a lower threshold if active haemolysis
  • confirmation of diagnosis
  • educating parents about G6PD deficiency and how to avoid triggers (especially mothballs)
  • recommending testing of other children in the family if not already done.

More information

Clinical

Consumer

References

  • Balnchette V, Doyle J, Schmidt B, Zipursky A. Hematology. In Neonatology: Pathophysiology and Management of the Newborn, 4th ed. Philadelphia: JB Lipincott Co 1994; 952-999
  • Jennifer E Frank, Diagnosis and Management of G6PD Deficiency Am Fam Physician, 2005,Oct 1;72(7):1277-1282

Parent factsheet

Get in touch

Centre of Clinical Excellence - Women and Children
Safer Care Victoria

Version history

First published: October 2013

Last web update: October 2018

Review by: March 2020

Uncontrolled when downloaded

Page last updated: 17 Feb 2021

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