Case Study
A 31 year old male presented to his local accident and emergency department with abdominal pain. He has recently been feeling unwell and presents with a suspected upper respiratory tract infection and he has a persistent cough and shortness of breath. Upon examination he has hepatosplenomegaly and has been recently complaining of intense pain in his lower right leg, which is red and warm to the touch. The doctor requests a FBC test and haemoglobin variant analysis. The results are shown below, with normal ranges provided
FBC Results:

Parameter Result Normal range
Haemoglobin 87 g/L 120 – 160 g/L
WBC 12.2 x 109/L 4.0 – 11.0 x 109/L
RBC 2.86 x 1012/L 4.20 – 5.40 x 1012/L
HCT 0.271 L/L 0.35 – 0.47 L/L
MCV 94.7 fL 78 – 98 fL
MCH 30.3 pg 27 – 32 pg
Platelets 337 x 109/L 150 – 450 x 109/L
Neutrophils 6.49 x 109/L (53.2%) 2.0 – 7.5 x 109/L (50 – 98%)
Lymphocytes 4.50 x 109/L (36.8%) 1.5 – 4.0 x 109/L (5 – 50%)
Monocytes 0.54 x 109/L (4.4%) 0.2 – 1.0 x 109/L (2 – 10%)
Eosinophils 0.35 x 109/L (2.9%) 0.1 – 0.8 x 109/L (1 – 4%)
Basophils 0.09 x 109/L (0.7%) 0.01 – 0.2 x 109/L (0 -2%)
RDW 19.9% 11.5 – 13.9%
Reticulocytes (abs) 526 x 109/L 50 – 100 x 109/L
Reticulocytes % 17.5% 0.2 – 2.0%

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Would a packed red blood cell transfusion be appropriate for this patient? Justify your answer. With reference to two peer-reviewed scientific sources explain the risks associated with transfusion for patients in this group and how these risks can be reduced
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Haemoglobin Variant analysis by HPLC:

Parameter Result Normal range
Hb F 3.8% 0.1 – 1.0%
Hb A 2.9% 95 – 98%
Hb A2 3.6% 1.8 – 3.5%
Hb variant 89.2%

Data interpretation questions:

Provide a definition of anaemia and explain whether this patient be considered anaemic. Justify your answer. (2 marks)

What is the likely cause of the intense pain in the patient’s lower right leg? Explain why this patient may be more susceptible to this event. (3 marks)

Haemoglobin variant analysis was carried out using HPLC. Explain the principle behind HPLC for haemoglobin variant analysis with reference to one peer-reviewed scientific paper. (4 marks)

What are reticulocytes and why are they likely to be raised in this case? (3 marks)

Haemoglobin variant analysis shows the presence of an abnormal peak on the chromatogram. Interpret the chromatogram to suggest a possible diagnosis for the patient and explain how you arrived at this diagnosis. (4 marks)

Haemoglobin variants cannot be diagnosed on the basis of HPLC results alone. What further diagnostic testing would be appropriate in this case? Explain the principle behind your chosen diagnostic test. (3 marks)

A blood film is requested on this patient by the Biomedical Scientist in the laboratory. Identify the letter which corresponds to a good example of the abnormal features below (1 mark each):

Polychromatic RBC
Target cell
Howell-Jolly body

What is the most significant diagnostic feature that can be seen on the blood film and what is the mechanism by which this cell type arises? (3 marks)

Short Answer Questions.

In this section you are expected to cite peer-reviewed scientific sources where required. You should write a maximum of 200 words for a 5 mark question and a maximum of 400 words for a 10 mark question.

With reference to a peer-reviewed scientific source, suggest an alternative potential cause of a normochromic, normocytic anaemia and suggest an alternative diagnostic test to distinguish it from the cause in this case. (5 marks)

Would a packed red blood cell transfusion be appropriate for this patient? Justify your answer. With reference to two peer-reviewed scientific sources explain the risks associated with transfusion for patients in this group and how these risks can be reduced. (10 marks)

Patients with this condition have a mild to moderate anaemia which worsens in response to certain triggers. Explain the possible triggers of the anaemia and the mechanism by which the anaemia develops in patients with this condition. (10 marks)

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