BIO3107 - What tests should be done in order to make a definitive diagnosis?

Assignment Task

Case 1

Clinical notes:

A newborn with unexplained jaundice.

Full blood count results and blood film

Parameter

Result

Reference range

Haemoglobin

136 g/L

121-191 g/L

Red blood cell count

3.62 x 1012/L

 3.34-5.40 x 1012/L

Haematocrit

0.453

0.37-0.60

Mean cell volume

 

101-117 fL

Mean cell haemoglobin

 

33.0-38.0 pg

MCHC

 

310-360 g/L

Reticulocyte count

6.5%

4.0-7.0%

White cell count

13.0 x 109/L

9.6-30.4 x 109/L

20240710063533AM-820028126-1464553484.PNG

Questions:

  1. Calculate and fill in the missing red blood cell indices in the table above.
  2. Describe the blood film morphology.
  3. What is the pathogenesis of the jaundice in this case and how would the jaundice be treated?
  4. What is the differential diagnosis in this case?
  5. What other immediate immunohaematologic tests should be done to make a definitive diagnosis?
  6. Two more specialised tests, that may be useful in this scenario are the osmotic fragility test and the eosin-5-maleimide test. Please describe these tests (i.e. what are these tests) and outline briefly how these tests can be used to make a definitive case in this scenario.

Case 2

Clinical notes:

A 23-year-old pregnant female for routine refugee screening.

Full blood count results and blood film

Parameter

Result

Reference range

Haemoglobin

108 g/L

115-165 g/L

Red blood cell count

5.25 x 1012/L

 3.80-5.80 x 1012/L

Haematocrit

0.324

0.37-0.47

Mean cell volume

 

80-100 fL

Mean cell haemoglobin

 

26.5-33.0 pg

MCHC

 

310-360 g/L

White cell count

9.7 x 109/L

4.9-12.8 x 109/L

Platelet count

172 x 109/L

150-400 x 109/L

Blood film

20240710062932AM-2141012791-1708287397.PNG

Questions:

  1. Calculate and fill in the missing red blood cell indices. 
  2. Describe the blood film morphology. 
  3. What is the differential diagnosis in this case? 
  4. What tests should be done in order to make a definitive diagnosis?
  5. Given that patient is pregnant, what other tests should be carried out? 

Case 3:

Clinical notes:

A 23-year-old man presented to his general practitioner (GP) with lethargy and bleeding gums. The GP noted that the patient was pale, had numerous bruises on his limbs and a fine rash on his torso.

Full blood count results and blood film

Parameter

Result

Reference range

Haemoglobin

95 g/L

130-180 g/L

Red blood cell count

2.92  x 1012/L

4.50-6.50 x 1012/L

Haematocrit

0.271

0.40-0.54

Mean cell volume

92.8 fL

80-100 fL

Mean cell haemoglobin

32.5 pg

26.5-33.0 pg

MCHC

351 g/L

310-360 g/L

Reticulocyte count

1.26 x 109/L

20-80 x 109/L

White cell count

3.2 x 109/L

3.5-11.0 x 109/L

Platelet count

21 x 109/L

150-400 x 109/L

Blood film

20240710062932AM-383380174-79872302.PNG

Questions:

  1. Describe the morphology of the cells in the top corners of the field.
  2. Describe the morphology of the cell in the bottom left-hand corner of the film
  3. What is your provisional diagnosis based on the clinical presentation, the full blood count results and the white blood cell morphology?
  4. What further tests should be performed immediately on this patient and why?

Case 4.

Clinical notes:

A 3-year-old male presents to ED with bloody diarrhoea and a rash.

Full blood count results and blood film

Parameter

Result

Reference range

Haemoglobin

92 g/L

110-140 g/L

Red blood cell count

3.58 x 1012/L

 3.86-5.00 x 1012/L

Haematocrit

0.28

0.31-0.38

Mean cell volume

78.5 fL

73-85 fL

Mean cell haemoglobin

25.7 pg

25-30 pg

MCHC

327 g/L

310-360 g/L

Reticulocyte count

150 x 109/L

20-80 x 109/L

White blood cell count

18.6 x 109/L

4.9-12.8 x 109/L

Platelet count

27 x 109/L

215-450 x 109/L

Blood film

20240710062914AM-1668083867-573367774.PNG

Questions:

What is the likely cause of the rash in this patient and what is the name given to this type of rash?

Describe the red blood cell morphology in the blood film. 

Describe the white blood cell morphology in the blood film.

What is the name given to this the type of anaemia present in this case? 

Taking into consideration the clinical presentation, the full blood count results and the red blood cell morphology, what is your provisional diagnosis for this case?

What is your responsibility as a medical laboratory scientist when faced with a case like this?

Case 5.

Clinical notes:

A 2-year-old child presenting with persistent pyrexia for two weeks and non-responsive to antibiotics. The patient was subsequently diagnosed with Kawasaki Disease following pathology (below) and other clinical assessments.

Full blood count results and blood film

Parameter

Result

Reference range

Haemoglobin

89 g/L

110-140 g/L

Red blood cell count

3.49 x 1012/L

 3.86-5.00 x 1012/L

Haematocrit

0.26

0.31-0.38

Mean cell volume

75.9 fL

73-85 fL

Mean cell haemoglobin

25.5 pg

25-30 pg

MCHC

336 g/L

310-360 g/L

White blood cell count

20.2 x 109/L

4.9-12.8 x 109/L

Neutrophil

72%

14.5 x 109/L

1.1 – 8.1 x 109/L

Lymphocyte

23%

4.6 x 109/L

0.8 – 4.8 x 109/L

Monocyte

4%

0.8 x 109/L

0.2 – 1.3 x 109/L

Eosinophil

2%

0.4 x 109/L

0.1 – 0.4 x 109/L

Basophil

0%

0.0 x 109/L

< 0>9/L

Platelet count

375 x 109/L

215-450 x 109/L

ESR

106 mm/h

1 – 20 mm/h

Blood film

20240710062914AM-1333265258-323005846.PNG

Question

  1. What is Kawasaki disease and what is the major complication of this disease? In your response be sure to include the major complication of this disease if there is a delay in its diagnosis.
  2. Although the cause of Kawasaki disease is largely unknown, please highlight the current accepted aetiology of its development. 
  3. ITPKC is a gene that is associated with an increased risk of the disease. What does it encode for and what is the function of its gene product? In very simple terms, how might this increase an individual`s susceptibility to developing Kawasaki disease? 
  4. What are the major laboratory findings (both haematological and biochemical pathology; hint: The blood film above may assist you)?
  5. How is it treated clinically? 

Case 6.

Clinical problems:  Thrombosis, Anti-thrombotic Therapy and DIC

Please answer one of the following (i.e. a or b):

a) Warfarin-induced skin necrosis

  1. What is Warfarin-induced skin necrosis (WISN) and how does it occur (i.e. how does it develop/what is its pathophysiology)?
  2. What are the predominant clinical features?
  3. How is it treated? 

b) Neonatal purpura fulminans (NPF)

  1. What is NPF and how does it result?
  2. What are the primary clinical and haematological laboratory features/findings? 
  3. How is the condition managed clinically? 

Case 7.

Laboratory investigation of inherited and acquired bleeding disorders

Please answer part (a) and either (b) or (c) (i.e. answer a, then choose to answer either b or)

a) Echis time and Ecarin clotting time:

  1. What are the principles of the tests and interpretation of results?

b) Thrombin time:

  1. What is the principle of test and interpretation of results?
  2. What are the causes of a prolonged thrombin time?

c) Reptilase time:

  1. What is the principle of test and interpretation of result?
  2. What are the causes of a prolonged reptilase time?