- 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|
|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.
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
- What additional laboratory investigations could be performed to further support the diagnosis?
- Discuss the treatment strategies for this patient including both conventional and experimental therapies.