G6PD Deficiency

Question 1

In what regions of the world is G6PD deficiency more common?

Answer 1

Mediterranean and Africa

Question 2

How is G6PD inherited?

Answer 2

X-linked recessive

Question 2

What can precipitate a haemolytic crisis in G6PD?

Answer 2

Drugs
infections
broad (fava) beans

Question 3

Pathophysiology of G6PD deficiency

Answer 3

G6PD plays a part in the pentose phosphate pathway, which also creates NADPH

NADPH is important for converting oxidised glutathine back to it’s reduced form

Reduced glutathine protects red blood cells from oxidative damage

↓ G6PD = high red cell susceptibility to oxidative stress

Question 3

Clinical features

Answer 3

neonatal jaundice is often seen
intravascular haemolysis
gallstones are common
splenomegaly may be present
Heinz bodies on blood films. Bite and blister cells may also be seen

Question 4

Test to diagnose

Answer 4

G6PD enzyme assay

Question 5

Drugs which trigger haemolysis in G6PD

Answer 5

anti-malarials: primaquine
ciprofloxacin

sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas

Question 6

Where does haemolysis occur in G6PD

Answer 6

Intravascular

Question 7

Blood film finding in G6PD

Answer 7

Heinz bodies