- 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.
- 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:
- Evaluate the significance of the laboratory test results and propose a likely diagnosis for this patient
(15 marks)
- What additional laboratory investigations could be performed to further support the diagnosis?
(8 marks)
- Discuss the treatment strategies for this patient including both conventional and experimental therapies.
(12 marks)