Haematology

Question 1

What is the inheritance pattern of von Willebrand disease?

Answer 1

Autosomal dominant

Question 2

What are the features of Fanconi anaemia ?

Answer 2

Macrocytic anaemia 
Pancytopenia in 50%
Cafe au lait spots 50% 
Short stature 50% 
Thumb / radial anomalies
Microcephaly
Abnormal gonads 
Eye anomalies
Structural renal defects 
Dev delay

Cancer predisposition in 10-30%

Can have VACTERL associations

Question 3

What organisms would a person with sickle cell anaemia be most vulnerable to?

Answer 3

Strep pneumoniae
Neisseria meningidites
Klebsiella pneumoniae 
Haemophilus influenzae
Salmonella typhi 
Cryptococcus neoformans 
Pseudomonas aeruginosa 

Ie encapsulated organisms due to functional asplenia

Question 4

What condition is the finding of Birbeck granules on electron microscopy pathognemonic for?

Answer 4

Langerhans cell histiocytosis

Question 5

What condition should you suspect with immunohistochemistry findings of large cells positive for S-100 and CD1a protein ?

Answer 5

Langerhans Cell Histiocytosis

Question 6

How do you distinguish between haemophilia and lupus anticoagulant on mixing studies ?

Answer 6

Both have prolonged APTT
Haemophilia corrects with mixing studies
Lupus does not (or inhibitor)

Question 7

What is the cause of these blood results?
Prolonged APTT
Prolonged thrombin time
Normal reptilase

Answer 7

Heparin effect

Reptilase assesses fibrinogen

Question 8

Which type of haemophilia is most at risk of developing inhibitors ?

Answer 8

Severe haemophilia A 30%

Question 9

Sickle cell disease blood film will show Howell jolly bodies - T/F

Answer 9

True

Question 10

What is a distinguishing feature on blood film of G6PD?

Answer 10

Heinz bodies

Question 11

Name 3 causes of shistocytes on blood film

Answer 11

Microangiopathic haemolytic anaemia HUS
DIC E.g. Kassabach Merritt
Malignancy

Question 12

What stain is used to differentiate AML from ALL?

Answer 12

Myeloperoxidase

Question 13

What are Auer rods suggestive of?

Answer 13

AML

Question 14

What are Reed Sternberg cells suggestive of?

Answer 14

Hodgkin Lymphoma

Question 15

What are Dohle bodies suggestive of ?

Answer 15

Located in neutrophils, marker of inflammation

Question 16

What are hypersegmented neutrophils suggestive of?

Answer 16

B12/ folate deficiency

Question 17

On an iron stain what are ringed sideroblasts suggestive of?

Answer 17

Mitochondrial disorders

Question 18

What should normal RBC look like on film at birth?

Answer 18

Macrocytic normochromic

Question 19

When are Beta chains produced?

Answer 19

From 4-6 months

Question 20

What chromosome is Beta chain gene located on?

Answer 20

11

Question 21

What chromosome is alpha chain gene located on?

Answer 21

16

Question 22

What is raised HbA2 diagnostic for ? (Alpha 2, delta 2)

Answer 22

Beta thal

Question 23

What is foetal haemoglobin composed of?

Answer 23

Alpha 2

Gamma 2

Question 24

In alpha thalassaemia what is the consequence of 3 gene deletion?

Answer 24

HbH (4 beta chains)

Question 25

In alpha thalassaemia what is the consequence of 4 gene deletion ?

Answer 25

HbBarts | 4 gamma chains

Question 26

What vitamin deficiency is suggested by raised MMA and homocysteine?

Answer 26

B12 NB folate def : normal MMA raised homocysteine

Question 27

Which immunoglobulin is associated with warm type autoimmune haemolytic anaemia ? And cold?

Answer 27

Warm IgG | Cold IgM

Question 28

Name 4 causes of haemoglobinuria due to intravascular haemolysis

Answer 28

``` Oxidant haemolysis G6PD ABO incompatibility Cold type AIHA Paroxysmal nocturnal haemoglobinuria Malaria ```

Question 29

What is the inheritance of G6PD?

Answer 29

X linked

Question 30

What organisms are patients susceptible to in sickle cell disease?

Answer 30

Encapsulated Due to splenic sequestration Strep pneumoniae Salmonella - cause of osteomyelitis

Question 31

Name two types of congenital neutropenia syndromes

Answer 31

Kostmann | Schwachman diamond

Question 32

What do you see on blood film of ITP?

Answer 32

Few but large platelets

Question 33

What is the treatment for life threatening bleeding due to ITP ?

Answer 33

``` Methylpred IV Platelet transfusion Recombinant factor VIIa IVIG Urgent splenectomy ```

Question 34

What is the commonest antibody found in neonatal alloimmune thrombocytopenia ?

Answer 34

Anti HPA 1 a

Question 35

What condition would you see giant platelets on film? | What is the defect ?

Answer 35

Bernard soulier | Glycoprotein 1 b deficiency - don’t aggregate

Question 36

``` What syndrome should you suspect ? Bleeding due to plt dysfunction Albinism Photophobia Pyogenic infections Peripheral neuropathy ```

Answer 36

Chediak higashi

Question 37

What is the inheritance of haemophilia ?

Answer 37

X linked recessive

Question 38

What is the severity of Haemophilia A based on factor levels ?

Answer 38

<1 % severe 1-5% moderate 5-50% mild

Question 39

What should you suspect in haemophilia A if APTT does not correct with mixing ?

Answer 39

Inhibitor

Question 40

What are the types of vWF deficiency ?

Answer 40

Type 1 - decreased amount normal multimer Type 2 - decreased amount and abnormal Type 3 - virtual absence

Question 41

What is the treatment for vWF def?

Answer 41

Desmopressin | Increases release of vWF from endothelial cells

Question 42

What should warfarin do to coags?

Answer 42

Prolonged PT

Question 43

What should heparin do to coags?

Answer 43

Prolonged APTT Does not correct with mixing Does not change with reptilase time