Haematology

Question 1

Briefly describe the pathophysiology behind Von Willebrand disease.

Answer 1

Bleeding disorder due to an abnormality of vWF. vWF acts as an adhesive bridge between platelets and the damaged sub-endothelium. Without it it takes longer for bleeding to stop.

Question 2

Describe the treatment for VWD.

Answer 2

1. Mild- Desmopressin (DDAVP)

2. Severe- plasma dereived FVIII concentrate

Question 3

Describe the inheritance pattern seen in haemophilia.

Answer 3

X linked recessive

Question 4

Haemophilia A is due to a deficiency in which clotting factor?

Answer 4

Factor VIII

Question 5

Haemophilia B is due to a deficiency in which clotting factor?

Answer 5

Factor IX

Question 6

Give 3 signs of haemophilia.

Answer 6

1. Easy bruising
2. Haematomas
3. Joint bleeds - prophylaxis should be given to prevent this.

Question 7

Give 2 causes of thrombocytopenia in children.

Answer 7

1. ITP

2. Marrow failure

Question 8

Give 3 signs of thrombocytopenia.

Answer 8

1. Petechial rash.
2. Bruising.
3. Bleeding.

Question 9

What diagnosis would you suspect in a child with a single figure platelet count but is otherwise well?

Answer 9

ITP.

They would have a normal blood film and clotting, just very low platelets.

Question 10

What can trigger acute ITP?

Answer 10

Viral infection

Question 11

What is the most common cause of anaemia in children?

Answer 11

Iron deficiency

Question 12

Give 3 signs of anaemia in children.

Answer 12

1. Pallor.
2. Irritable.
3. Tachycardic.
4. Murmurs.

Question 13

What is the treatment for iron deficiency anaemia?

Answer 13

Ferrous sulphate tablets

Question 14

Why does the treatment for iron deficiency anaemia sometimes fail?

Answer 14

Due to non-compliance

Question 15

Give 3 signs of beta thalassaemia major.

Answer 15

1. Severe anaemia.
2. Jaundice.
3. Splenomegaly.
4. Failure to thrive.

Question 16

Describe the management of beta thalassaemia major.

Answer 16

• Genetic counselling.
• Blood transfusions.
• Iron chelation.

Question 17

What does a low reticulocyte count indicate?

Answer 17

A production problem e.g. infection, renal disease, drugs, marrow failure/infiltration

Question 18

What does a high reticulocyte count indicate?

Answer 18

A degradation problem e.g. bleeding or haemolysis

Question 19

Give 3 consequences of sickle cell disease.

Answer 19

1. Anaemia.
2. Infection.
3. Painful crises.
4. Stroke.
5. Acute chest syndrome
6. Splenic sequestration.

Question 20

Describe the inheritance pattern seen in sickle cell disease.

Answer 20

Autosomal Recessive.

Question 21

What is the effect of sickle cell disease on Hb and reticulocyte count?

Answer 21

Low Hb.

Raised reticulocyte count.

Question 22

Describe the treatment for sickle cell disease.

Answer 22

• Hydroxycarbamide.
• Transfusions.
• Stem cell transplants

Question 23

What can trigger spherocytosis?

Answer 23

Parvovirus infection

Question 24

Describe the inheritance pattern seen in hereditary spherocytosis

Answer 24

Autosomal Dominant

Question 25

How can spherocytosis be treated?

Answer 25

Splenectomy - can increase RBC survival

Question 26

What type of leukaemia is most common in children?

Answer 26

ALL

Question 27

Give 3 symptoms of ALL.

Answer 27

Bone marrow failure: - anaemia: lethargy and pallor - neutropaenia: frequent or severe infections - thrombocytopenia: easy bruising, petechiae And other features: - bone pain (secondary to bone marrow infiltration) - splenomegaly - hepatomegaly—fever is present in up to 50% of new cases (representing infection or constitutional symptom) - testicular swelling

Question 28

Describe the treatment for ALL.

Answer 28

Chemotherapy. CNS directed therapy. Stem cell transplant.

Question 29

Which features suggest poor prognostic features of ALL?

Answer 29

``` Age < 2 years or > 10 years WBC > 20 * 109/l at diagnosis T or B cell surface markers Non-Caucasian Male sex ```

Question 30

What investigations might you do in a child to determine whether they have ALL?

Answer 30

1. Blood film. 2. Serum chemistry. 3. CXR. 4. BM aspirate. 5. Lumbar puncture - see if disease is in the CSF.

Question 31

What is HSP?

Answer 31

A systemic vasculitis where there is deposition of IgA complexes. It is characterised by a palpable purpura and there is often renal involvement.

Question 32

What is the SE of transfusions in beta thalassemic major patients? How is it managed?

Answer 32

repeated transfusion → iron overload | Tx: s/c infusion of desferrioxamine / oral iron chelation