G6PD deficiency

Question 1

define

Answer 1

X linked inherited disorder due to genetic mutations in the gene encoding the protein G6PD (located on the long arm of the X chromosome)

Question 2

epidemiology

Answer 2

More common in tropical areas
Higher in Jewish populations
Found in areas with high prevalence of malaria
Predominantly seen in males

Question 3

aetiology

Answer 3

mutation inherited

Question 4

pathology

Answer 4

Pathophysiology
G6PD normal function protects RBCs from oxidative stress by allowing the formation of NADPH that is used to maintain stores of glutathione in RBC
Glutathione prevents oxidative damage
Oxidative damage leads to destruction of RBC

Question 5

clinical manifestations

Answer 5

G6PD often presents with neonatal jaundice.
Other features of the condition are:
Anaemia - Fatigue, palpitations, shortness of breath, pallor
Intermittent jaundice, particularly in response to triggers
Gallstones
Splenomegaly

Question 6

investigations

Answer 6

• 1st line - heinz bodies
• gold standard - G6PD activity

Question 7

management

Answer 7

Avoiding of drugs, food and chemicals that can cause oxidative stress on the RBC