Glucose-6-Phosphate Dehydrogenase Deficiency

Question 1

What is the pathophysiology of glucose 6 phosphate dehydrogenase deficiency, what is it pattern of inheritance, and which groups does it commonly affect?

Answer 1

1. G6PD protects red blood cells from oxidative stress, lack of it leads to haemolysis in older red blood cells.
2. X-linked recessive
3. Mediterranean and Asian group

Question 2

What is this a presentation of?
Male, anaemia symptoms (pallor, weakness, fatigue, breathlessness, tachycardia), excess bilirubin symptoms (jaundice, gallstones, dark urine).

Answer 2

Glucose 6 phosphate dehydrogenase deficiency

Question 3

What are the haemolysis triggers in glucose 6 phosphate dehydrogenase deficiency?

Answer 3

Infection, antimalarial drugs, broad beans.

Question 4

How is glucose 6 phosphate dehydrogenase deficiency diagnosed?

Answer 4

1. Hb normal in asymptomatic individuals
2. During acute crisis - anaemia and evidence of haemolysis
3. Heinz bodies, bite cells
4. Non-immune haemolysis so DAT will be -ve

Question 5

What is the management for glucose 6 phosphate dehydrogenase deficiency?

Answer 5

1. Avoid precipitants

2. In severe haemolysis, blood transfusion may be required