G6PD deficiency Flashcards
What is G6PD needed for?
Glucose 6 phosphate dehydrogenase is key for red blood cell survival – its important in the glycolytic pathway and it protects red blood cells haemoglobin from oxidative damage.
Our bodies produce free radicals that can destroy cells, G6PD helps in the pathway to destroy them.
When red blood cells are targeted by free radicals, it causes them to become unstable and this leads to haemolysis, they can also damage haemoglobins.
What is a positive of G6PD deficiency?
It gives protection against malaria
What type of deficiency is G6PD?
X linked recessive
Affects all males with the gene
Females are only carriers (they often pass it on to their sons)
What do the RBCs look like under the microscope?
Blister/bite cells
How does G6PD deficiency present?
Anaemia (due to increased haemolytic) Neonatal jaundice Splenomegaly Pigment gallstones Dark urine
When do they experience anaemia?
When they have infection
Eat broad beans
Have an infection
Where are the RBCs broken down?
Intravascularly
What is G6PD deficiency?
X linked recessive disorder
which causes increased destruction of red blood cells
What does RBCs break down into?
Globin (amino acids)
Haeme (becomes bilirubin and is excreted as bile)
^If theres too much bilirubin It will stay in the circulation causing jaundice
What is oxidative stress?
when theres too much free radical production leading to haemolytic episodes
What is oxidative stress?
when theres too much free radical production leading to haemolytic episodes
What is the presentation of G6PD?
Most patients are asymptomatic until they come into contact with an oxidative stressor.
Jaundice
Dark urine
Anaemic symptoms (fatigue, hypotension, tachycardia, confusion)
Back pain (due to kidney damage)
What are oxidative stressors?
Painkillers fava beans soy products red wine infection
How is G6PD deficiency diagnosed?
Blood tests:
- haemolytic anaemia (low levels of red blood cells and increased levels of reticulocytes)
- High bilirubin
- Low haptoglobin (binds free haemoglobin)
Blood smear:
- cute cells and Heinz bodies
Definitive test?
Enzyme assay to detect levels of G6PD
