Haem

Question 1

What condition would you see red cell fragments, Heinz bodies and Anaemia?

Answer 1

G6pd deficiency

Question 2

What Hb level counts as anaemia in neonates, infants and children?

Answer 2

Neonates <14g/dl
Infant <10g/dl
Child < 11g/dl

Question 3

What is falconi anaemia?

Answer 3

Genetic disease - often leads to cancer / AML. And bone marrow failure

Question 4

What are the clinical features of sickle cell?

Answer 4

Painful crisis
Haemolytic anaemia (gallstones)
Increased infections (e.g. Pneumococcal)
Stroke/chest syndrome

Question 5

How do you diagnose haemophilia?

Answer 5

Coagulation - prolonged aptt, normal pt and tt, normal platelets.
Haemophillia a - factor 8
HepppEmophilla b - factor 9

Question 6

Which syndromes are associated with platelet disorders?

Answer 6

Glanzmann thrombasthenia (AR- gpIIb-IIIa)

Bernard-soulier syndrome (AR- large platelets low count, lack of gpIb-IX and GpV)

Von willebrand disease (type IIb)

Wiskott-Aldrich syndrome (x-linked, small platelets low count)

Question 7

Most common leukaemia in children?

Answer 7

ALL

Question 8

What are the different types of ALL?

Answer 8

80% B-cell ALL

20% T-cell ALL

Question 9

How does imatinab work in CML?

Answer 9

Tyrosine kinase inhibition specifically targeting the BCR-ABL gene (Philadelphia chromosome t(9;22)

Question 10

What can be given to reduce bleeding in a person with Von willibrands disease after injury and before surgery?

Answer 10

Desmopressin - it is an analogue to ADH, it stimulates the realease of vwf from weibel-palade bodies in endothelial cells