1. A 5-year-old boy of West African descent was presented to the local clinic with extreme tiredness, palpitations, headaches and shortness of breath. He was the first child of a healthy young woman, but her father had previously demonstrated similar symptoms 10 years previously. On further examination the boy showed a yellowing of the skin and eyes and evidence of splenomegaly. Case history notes state the boy has recently been on a course of antibiotics for a chest infection. A full blood count was performed and gave the following results:


Test Patient results Reference ranges
White blood cells 5.6 ×109/L 4.0 – 11.0 ×109/L
Haemoglobin 41 g/L 115 – 155 g/L
Red blood cells 2.5 ×1012/L 3.9 – 5.6 ×1012/L
Mean cell volume (MCV) 94 fl 80 – 95 fl
Mean cell haemoglobin (MCH) 29 pg 27 – 34 pg
Haematocrit 0.28 0.36–0.47
Reticulocyte 21% 0.5 – 2.5%
Platelets 220 ×109/L 150 – 400 ×109/L
Lactate dehydrogenase (LDH) 984  iu/L 200–450 iu/L
Plasma haemoglobin 144 mg/L 10 – 40 mg/L
Serum haptoglobin Non-detectable 0.8 – 2.7 g/L
Direct Antiglobulin test Negative Negative


The blood film showed nucleated red blood cells and polychromatophilia.




  1. Critically discuss the significance of the clinical features and case history for this patient.

(5 marks)



Question 1 is continued on page 3…





Continuation of question 1:





  1. Evaluate the significance of the laboratory test results and propose a likely diagnosis for this patient

(15 marks)



  1. What additional laboratory investigations could be performed to further support the diagnosis? 

(8 marks)


  1. Discuss the treatment strategies for this patient including both conventional and experimental therapies.

(12 marks)