glucose 6 phosphate Def

Question 1

Blood Film

Answer 1

Fragmented RBC

Pokilocytosis / Macrocytosis / anisocytosis

Polychromatophilia

Heinz Bodies

Bite Cells

Question 2

Other Tests Done

Answer 2

FLuroescent Spot Test to detect Fluroescent of NADPH

Question 3

Causes

Answer 3

X linked Recessive

Pentose phosphate pathway affected

NADPH Decreases = ROS Increases (cell damage occurs)

Question 4

Symptoms

Answer 4

1/3 males have jaundice

Majority Asymptomatic

Can have acute haemolysis anaemia (peridodic triggers)

Question 5

What can occur in neonatals

Answer 5

Neonatal hyperbilirubinaemia

Question 6

Treatment

Answer 6

Prevent haemolysis

Treat Jaundice /anaemia (phototherapy in infants through photo-oxidation removing bilirubin from system)

Remove triggers which increases Oxidative stress

(fava beans + dapsone medication)