G6PD deficiency Flashcards
1
Q
What ethnicities are more commonly affected by G6PD def
A
Medirerranean, Middle Eastern and African
2
Q
What pattern of inheritance is G6PD
A
X-linked recessive - affecting males more
3
Q
Presentation of G6PD def
A
Jaundice, anaemia, intermittent jaundice in response to triggers, gall stones, splenomegaly
4
Q
Diagnosis of G6PD def
A
Enzyme assay, Heinz bodies may be seen on blood film (denatured haemoglobin) seen within RBCs
5
Q
Management of G6PD deficiency
A
Avoid triggers to acute haemolysis (crises) - these can be medications, fava beans and infections
6
Q
What does the enzyme G6PD do
A
Aids the function of RBCs
