G6PD deficiency Flashcards
1
Q
what is G6PD deficiency?
A
This is a deficiency of the G6PD Enzyme which leads to anaemia through haemolysis.
2
Q
the function of G6PD enzyme
A
- protects RBCs from Reactive Oxygen Species damaging them and causing haemolysis
- It is also involved in glutathione synthesis which also helps in protecting against ROS.
3
Q
what causes G6PD deficiency
A
X linked recessive condition
4
Q
who is more likely to get G6PD deficiency
A
males of Mediterranean, African and
Middle Eastern descent
and in patients from countries where malaria is prevalent as it is protective against the infection
5
Q
pathophysiology of G6PD deficiency
A
- A G6PD Enzyme deficiency, means RBCs aren’t as well protected against oxidative damage.
- Therefore, anaemia occurs
because nothing is stopping the ROS from haemolysing the red blood cells. - The free radicals attack Hb molecules and result in Heinz bodies. 4. Spleen macrophages try to take them out of the RBCs and leave them looking devoured, these are Bite cells
6
Q
symptoms of G6PD deficiency
A
- Shortness of breath
- Palpitations
- Fatigue
- Dyspnoea
7
Q
signs of G6PD deficiency
A
- Neonatal or intermittent
Jaundice - Pallor
- Anaemia
- Splenomegaly
- Dark tea-like coloured urine
- Gallstones
8
Q
precipitating factors for G6PD deficiency
A
- Fava Beans
- Naphthalene (pesticide)
- Antimalarials
- Nitrofurantoin
- Aspirin
9
Q
2 investigations for G6PD deficiency
A
- FBC + blood film
- G6PD Enzyme Assay
10
Q
what does FBC + blood film for G6PD deficinecy show
A
- Normocytic
- Normochromic
- Low RBC
- High Reticulocytes
- Heinz Bodies
- Bite Cells
11
Q
what does G6PD enzyme assay show
A
Low G6PD
12
Q
treatment for G6PD deficinecy
A
- Avoid Precipitating Factors
- Blood Transfusions during
G6PD attack (rapid anaemia +
jaundice)
13
Q
how to remember G6PD deficiency diagnosis
A
In G6PD deficiency, you BITE
HEINZ beans
- bite cells
- heinz bodies
14
Q
A
