G6PD deficiency Flashcards
What does G6PD deficiency stand for?
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
What is G6PD deficiency?
Commonest red blood cell enzyme defect
Who is G6PD deficiency more common in?
People from the Mediterranean and Africa
What type of inheritance does G6PD deficiency have?
X-linked recessive pattern
Who does G6PD Deficiency normally affect?
Males
What are the crises triggered by in G6PD Deficiency?
Infections
Medications
Fava beans (broad beans).
How does G6PD deficiency normally present?
Neonatal jaundice
What are the other possible presentations of G6PD deficiency?
- Intravascular haemolysis
- Gallstones
- Splenomegaly
- Anaemia
- Intermittent jaundice
When might you get intermittent jaundice with G6PD deficiency?
In response to triggers
What might you see on a blood film of someone with G6PD deficiency?
Heinz bodies
Bite and Blister cells
What are Heinz bodies?
Blobs of denatured haemoglobin (“inclusions”) seen within the red blood cells.
How is G6PD deficiency diagnosed?
G6PD enzyme assay
When should levels of G6PD be checked after an episode of haemolysis?
Around 3 months after
What is the management of G6PD deficiency?
Avoid triggers to acute haemolysis
What medications could trigger haemolysis and should be avoided?
- Anti-malarial: Primaquine (an antimalarial)
- Ciprofloxacin
- Sulph-group drugs: Sulfonylureas (e.g gliclazide), Sulfasalazine and other sulphonamide drugs
What is the function of the G6PD enzyme?
It is responsible for helping protect cells from damage by reactive oxygen species (ROS)
What does a deficiency in G6PD do to the cell?
Makes cells more vulnerable to ROS, leading to haemolysis in red blood cells
What can a high production of ROS lead to?
Haemolytic anaemia
What might be a typical history for someone with G6PD deficiency be?
- Neonatal jaundice
- Infection/drugs precipitate haemolysis
- Gallstones
What can a trigger of G6PD deficiency result in?
Haemolytic anaemia
How does a crises of G6PD deficiency present?
Intermittent jaundice and anaemia
When would you do a G6PD deficiency assay?
At the time of diagnosis and three months later
