question 1

i – D. Hermansky-Pudlak

ii – H. Pseudo-Type 2 VwD

iii – B. Glanzman Thromboasthenia

(detail)

 

question 2

i – J. Bernard-Soulier

ii – R. Paris-Trousseau-Jacobsen Syndrome

iii – Y. Wiskott-Aldrich

iv– N. Grey Platelet Syndrome

v – M. Glanzman Thrombasthenia

(detail)

 

question 3

i - C. The t(2;5) NPM1-ALK fusion gene is seen in ALK+ Anaplastic large cell lymphoma and confers a better prognosis than ALK- subtypes.

ii - F. The t(11;14) present in Mantle Cell lymphoma leads to overexpression of Cyclin D1

iii - H. inv(16) is often associated with a notable eosinophilia in AML. The crystals described in the case are Charcot-Layden crystals.

iv - D. t(3;14) FOXP1-IgH is seen in 20% of orbital marginal zone lymphomas.

v - G. Other translocations listed here may be seen in ALL, but t(12;21) would be most typical for B-ALL in children aged around 10 years.

 

question 4

Correct Answer = B

(detail)

 

question 5

Correct Answer = C

(detail)

 

question 6

Correct Answer = E

(detail)

 

question 7

i - B. Hereditary Elliptocytosis

ii - G. Familial Pseudohyperkalaemia

iii - A. Hereditary Spherocytosis

iv - C. Hereditary Pyropoikilocytosis

v - H. South East Asian Ovalcytosis

(detail)

 

question 8

i - C

ii - F

iii - A

iv - E

v - B

(detail)

 

question 9

Correct answer = B (detail)

 

question 10

Correct answer = E (detail)

 

question 11

Correct answer = E (detail)

 

question 12

i - E

ii - J

iii - A

iv - B

v - D

(details here, here and here)

 

question 13

Correct answers = A & D (rationale)