P2 CASE SCENARIO

Question 1

A 9-year-old Swedish boy has pallor, jaundice, splenomegaly and cholelithiasis.
There is a past history of fluctuating jaundice. Family history for the same
condition is positive. Based on the physical findings and the ethnic origin of this
boy a provisional diagnosis of hereditary spherocytosis is made.
Direct Coombs test is negative.
Hemoglobin pattern by HPLC and G6PD assay are normal.
Q1Direct Coombs test is negative: what does this mean?

Answer 1

Auto-immune hemolytic anemia is ruled out.

Question 2

Q2 : how would you interpret the lab results ?CBC : Hemoglobin: 8 g/dl
(Corrected) Reticulocyte count: 10%
MCV : 80 fl (RR: 80 – 95 fl)
MCHC: 39% (RR: 33 – 37)
Total bilirubin: 50 μmol/L (RR: 5.1-17.0)
Direct bilirubin: 10 μmol/L (RR: Less than 5.1)

Answer 2

results (with clinical findings) suggest a chronic hemolytic anemia.

Question 3

Q3 :. What was observed in the peripheral smear that supported the diagnosis?

Answer 3

spherocytes

Question 4

Q4: Which specific test confirmed the diagnosis?

Answer 4

Osmotic fragility test: which will be increased in case of spherocytosis

Question 5

Q5:What is the mode of inheritance of this disease?

Answer 5

Autosomal dominant

Question 6

A 56-year-old man is evaluated for increased fatigability. His past medical history is significant for diabetes mellitus, osteoarthritis, and severe aortic stenosis that required aortic valve
replacement. His peripheral blood smear is shown on the slide below.
Q1 ; what is your diagnosis ?

Answer 6

Haemolytic anemia due to intravascular hemolysis

Question 7

A 6-year-old African American male is brought to your office for a routine check-up. His mother remarks that he often seems uninterested in playing with his peers and appears to “run out of breath quickly.” His medical records reveal that he has missed several pediatric vaccinations and has been hospitalized twice, once with a “chest infection” and once with abdominal pain. The patient mentions to you that occasionally his “bones hurt.
Q1: what type of anemia is your diagnosis ?

Answer 7

Sickle cell anaemia

Question 8

A 24-year-old man is evaluated for episodic anemia, jaundice, and dark urine. These episodes typically occur after the use of certain drugs or following infection. Additional history reveals that he has a brother who experiences similar episodes. Peripheral blood smear reveals red
blood cells with the findings shown below.
Q1 : what is your diagnosis ?

Answer 8

G6PD deficiency

Question 9

A 32-year-old woman comes to the office due to worsening fatigue and exercise intolerance. She has no history of blood disorders. Physical examination shows mild mucosal pallor. Hemoglobin is 7.8 g/dl. Peripheral blood smear is shown in the image below.
what is your diagnosis ?

Answer 9

hemolytic anemia