G6PD Deficiency Anaemia

Question 1

What kind of anaemia is this

Answer 1

Haemolytic

Question 2

Where is G6PD common

Answer 2

Africa, middle east + SE asia

Question 3

Inheritance pattern of G6PD

Answer 3

Heterogenous X-linked

Question 4

What gender does it commonly effect

Answer 4

Males

Question 5

Clinical problems in women with G6PD

Answer 5

Female heterozygotes have two populations of red cells - normal and 6GPD deficient due to LIONISATION

Question 6

How does G6PD deficiency occur

Answer 6

MISSENSE POINT MUTATIONS

Question 7

What is G6PD needed for

Answer 7

Provides NADPH which is used with glutathione to protect RBC from OXIDATIVE DAMAGE from compounds such as H2O2

Question 8

How does Deficiency effect RBC lifespan

Answer 8

Reduces it

Question 9

Where is gene G6PD located

Answer 9

chromosome Xq28 on factor VIII gene

Question 10

Symptoms

Answer 10

Asymptomatic:

Rapid anaemia
Jaundice
Haemolytic anaemia
Neonatal jaundice

Question 11

Why would an individual suffer from oxidative crisis

Answer 11

Reduction in glutathione production

Question 12

What precipitates glutathione reduction

Answer 12

1. ASPIRIN
2. Antimaterials
3. Antibacterials
4. Dapsone
5. Quinidine

These all induce HAEMOLYSIS

Question 13

Clinical features

Answer 13

Intravascular haemolysis - anaemia, jaundice and haemoglobinuria

Question 14

Blood count in diagnosis

Answer 14

Normal BETWEEN attacks

Question 15

Blood film during attacks

Answer 15

1. Irregularly contracted cells
2. Bite cells
3. Reticulocytosis
4. G6PD enzyme will be LOW

Question 16

What are bite cells

Answer 16

Cells with indentations in the membrane

Question 17

Why would G6PD levels be normal following an attack

Answer 17

Since oldest RBCs with least enzyme activity are destroyed selectively (false high conc.)

Question 18

Treatment

Answer 18

1. Stop drugs

2. Blood transfusion

Question 19

Is splenectomy useful

Answer 19

No