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What is G6PD deficiency?
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition characterised by reduced G6PD enzyme activity in red cells. This leads to increased susceptibility to oxidative haemolysis.
G6PD deficiency is the most common enzymatic disorder of red cells, affecting approximately 400 million people worldwide. There is increased prevalence in certain ethnicities such as Southeast Asians, Mediterranean and African ancestry.
How is G6PD inherited?
- G6PD deficiency shows an X-linked inheritance pattern.
- The affected males are hemizygotes, and have 100% chance of transmitting the abnormal gene to their daughters.
- Females with inherited G6PD mutation are often asymptomatic carriers. Rarely, they may have haemolysis due to skewed lyonisation (X-inactivation), homozygosity or compound heterozygosity for abnormal G6PD genes.
Signs and symptoms
- The signs and symptoms are variable. The majority of children are asymptomatic.
- Intermittent acute haemolysis may be precipitated by exposure to certain medications, chemicals, foods or infections.
- Rarely, children may have chronic haemolysis despite absence of triggers.
- Affected neonates may present with early onset, severe, and/or prolonged jaundice.
- The signs and symptoms of haemolysis include:
- Anaemic symptoms: pallor, persistent and/or tiredness
- Dark coloured urine
- Back pain
- Acute haemolysis in patients with known G6PD deficiency is investigated with a full blood count and reticulocyte count. Episodes of haemolysis are often self-limiting and resolve in about one week.
- The main management involves lifelong avoidance of precipitants (relevant medications and chemicals) to haemolysis, which can be found on these websites:
- Uncomplicated G6PD deficiency does not require formal haematology follow-up.
- In episodes of acute haemolysis, the precipitating agents should be removed as soon as possible. Consider specialist discussion if the anaemia is severe and/or symptomatic. Refer to the Newborn Services guideline for neonatal jaundice.
Information for patients and families
Did you find this information helpful?
- Date last published: 01 November 2017
- Document type: Clinical Guideline
- Services responsible: Paediatric Haematology/Oncology
- Author(s): Lochie Teague
- Owner: Lochie Teague
- Editor: Greg Williams
- Review frequency: 2 years
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