G6PD Deficiency

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G6PD  is  an  inherited  X-linkded  recessive  genetic  disorder,  haemolysis  results  from  oxidative  damage to RBCs due to loss of protective effect of the enzyme G6PD. 

Clinical presentation 

• Usually  asymptomatic  but  liable  to  haemolysis  (acute  anaemia)  if  infection,  incriminated drugs  (e.g.  sulphonamides,  chloroquine,  primaquine  or  proguanil).  or  foods  (e.g.  fava  beans) are taken. 
• Pallor 
• Jaundice  
• Dark urine (Coca-colored urine) 

Investigations:  

• FBP, peripheral smear, reticlocyte count,  
• Methaemoglobin reduction (G6PD) test.  

Pharmacological Treatment 

A: folic acid (PO) 5mg 24hourly for 1 to 3 months.  

AND 

B:  Transfusion  of  packed  red  blood  cells  in  severe  anaemia.  Give  10ml/kg  body  weight. 

Then assess the level of haemoglobin and clinical presentation.