Anaemia - Haemolytic Anaemia - G6PD

Question 1

What is G6PD Deficiency?

Answer 1

An X-linked recessive defect in the RBC enzyme G6PD (Glucose-6-Phosphate Dehydrogenase) - intravascular haemolytic.

Question 2

Epidemiology of G6PD (2).

Answer 2

1. Mediterranean and African patients.

2. Only Males (X-Linked Recessive).

Question 3

Triggers of G6PD (5).

Answer 3

1. Infections.
2. Medications.
3. Fava (Broad) Beans.
4. Drugs.
5. Henna.

Question 4

Give 3 Drug Triggers of G6PD.

Answer 4

PCS :-

1. Primaquine (Antimalarial).
2. Ciprofloxacin.
3. Sulph Drugs e.g. Sulphonamide, Sulphasalazine, Sulfonylureas.

Question 5

Clinical Presentation of G6PD (4).

Answer 5

1. Jaundice (Neonatal).
2. Gallstones.
3. Anaemia.
4. Splenomegaly.

Question 6

Investigations of G6PD (2).

Answer 6

1. Blood Film - Heinz Bodies & Bite-and-Blister Cells.

2. G6PD Enzyme Assay Diagnosis (Check levels 3 months after acute haemolysis).

Question 7

Pathophysiology of G6PD (4).

Answer 7

1. G6PD converts G6P and NADPH into 6-Phosphogluconolactone and NADPH.
2. NADPH converts oxidised Glutathione back to reduced form.
3. Reduced Glutathione protects RBCs from oxidative damage (superoxide anion and H2O2).
4. G6PD Deficiency = NADPH Deficiency = Reduced Glutathione Deficiency = Increased Susceptibility to Oxidative Stress.

Question 8

Type of Haemolysis - G6PD Deficiency vs. Hereditary Spherocytosis (2).

Answer 8

1. G6PD Deficiency = Intravascular Haemolysis.

2. Hereditary Spherocytosis = Extravascular Haemolysis.

Question 9

Management of G6PD (2).

Answer 9

1. Avoidance of Triggers.

2. Rarely - Transfusion.