Haematology

Question 1

What is difficient in haemophilla A

Answer 1

Factor 8

Question 2

What is deficient in haemophilla B/Christmas disease

Answer 2

Factor 9

Question 3

What would investigations for haemophillia show

Answer 3

Isolated prolonged APTT

Deficiency in factor 8 or 9

Question 4

What is fibrinogen deficiency

Answer 4

absence/decreased functioning of factor 1

Question 5

What is prothrombin deficiency

Answer 5

inherited/acquired/autoimmune phenomenon
Usually follows infection with adenovirus
Investigations show a raised INR

Question 6

What would investigations of Factor 7 deficiency show

Answer 6

Prolongation of PT
Elevated INR
Normal APTT

Question 7

What is idiopathic thrombocytopaenia purpura

Answer 7

destruction of the platlets as a result of:

• infection: CMV/HIV/Hep
• autoimmune
• medication
• lymphoproliferatie disorder

Question 8

What is the most common cause of idiopathic thrombocytopaenia purpura in children

Answer 8

usually follows a viral infection

self limiting - resolves in 6-8 weeks

Question 9

In ITP, if there is bleeding or a reason for the plt count to be raised what is the management

Answer 9

1. steroids
2. IVIG
3. intravenous Anti-D immunoglobulin in rhesus positive children

Question 10

Causes of anaemia

Answer 10

physiological
malnutrition
bone marrow failure
haemolysis
haemoglobinopathies
blood loss

Question 11

Example of bone marrow failure

Answer 11

Diamond black marfan
red cell aplasoa
aplastic anaemia

Question 12

Causes of haemolysis

Answer 12

haemolytic disease of the newborn

hereditary spherocytosis

Question 13

Examples of haemoglobinopathies

Answer 13

sickle cell disease

thalassaemia

Question 14

What is diamond- Blackfan syndrome

Answer 14

congenital hypoplastic anaemia that presents in infancy

10-25% familial, most sporadic

Question 15

Presentation

Answer 15

severe hypoplastic macrocytic anaemia

anomalies in upper limb, craniofacial regions, heart and urogenital tract

Question 16

Blood film blackfan syndrome

Answer 16

normochromic anaemia
normal white cells and platelets
red cell MCV is often high.

Question 17

Management of diamond blackfan sydrome

Answer 17

1. oral pred
2. add in ciclosporin
3. transfusion dependent
4. bone marrow transplant

Question 18

What is fanconi’s anaemia

Answer 18

autosomal X linked recessive bone marrow failure syndrome

usually diagnosed by 7 years old

Question 19

Features of fanconi’s anaemia

Answer 19

pancytopaenia

congenital dysmorphic features