G6PD Deficiency

Question 1

G6PD deficiency epidemiology

Answer 1

more common in people from the Mediterranean and Africa

Question 2

Inheritance of GP6D?

Answer 2

X-linked recessive - more common in MALE

Question 3

Clinical features of GP6D

Answer 3

Haemolytic anemia - neonatal jaundice is often seen
Infection and drugs percipitate hemolysis

gallstones are common

splenomegaly may be present

Question 4

Diagnosis of GP6D deficiency

Answer 4

Heinz bodies on blood films. Bite and blister cells may also be seen

G6PD enzyme assay

Question 5

Drugs to avoid with GP6D deficiency

Answer 5

anti-malarials which are quinine based: primaquine

quinolones : levo/ciprofloxacin

sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas

Question 6

What can primaquine (anti malarial) do in GP6D deficiency

Answer 6

Haemolytic anemia - jaundice

Question 7

How do GP6D differ from hereditary Spherocytosis?

Answer 7

AUTOSOMAL dominant ( affects male and female )

Question 8

Epidemiology of heridotary soherocytosis?

Answer 8

Northern European

Question 9

Clinical features of spherocytosis ?

Answer 9

Gallstones like GP6D deficiency
Neonatal jaundice and hemolytic anemia like GP6D

Heriditary spherocytosis has splenomegaly

Question 10

What is seen on blood film of heriditary spherocytosis ?

Answer 10

Spherocytes

Question 11

Diagnostic test for heriditary spherocytosis ?

Answer 11

EMA binding