Haematology

Question 1

Mode of inheritance of Haemophilia A?

Answer 1

X-linked recessive.

Question 2

Haemophilia A is a deficiency in what?

Answer 2

Coagulation factor VIII.

Question 3

Most common form of haemophilia?

Answer 3

Haemophilia A.

Question 4

Haemophilia B is a deficiency of?

Answer 4

Factor IX.

Question 5

How does haemophilia present?

Answer 5

• Prolonged bleeding after minor trauma.
• Haematoma formation.
• Spontaneous bleeding into joints.
• Soft tissue haemorrhage.

SEVERE:

• Haematuria.
• GI haemorrhage.
• IM and/ or intracranial haemorrhage.

Question 6

Describe the bleeding time seen in haemophilia A.

Answer 6

Normal.

Question 7

Describe prothrombin time seen in haemophilia A.

Answer 7

Normal PT.

Question 8

Describe activated partial thromboplastin time seen in haemophilia A.

Answer 8

Prolonged APTT.

Question 9

How is haemophilia A managed?

Answer 9

Regular Factor VIII infusions.

Question 10

Von Willebrand disease is a deficiency in what?

Answer 10

Von Willebrand factor.

Question 11

Functions of von willebrand factor (2)?

Answer 11

• Enhances platelet adhesion to areas of endothelial damage and vascular injury.
• Stabilises factor VIII by binding to it.

Question 12

When does Von Willebrand disease present?

Answer 12

At any point in life.

Question 13

Symptoms of Von Willebrand Disease?

Answer 13

• Easy bruising.
• Prolonged bleeding following minor trauma.
• Heavy bleeding following an operation.
• Conjunctival bleeding.
• Umbilical stump bleeding.
• Menorrhagia.

Question 14

Blood results of Von Willebrand disease?

Answer 14

• Prolonged bleeding time.
• Mildly prolonged APTT.
• Normal PT.

Question 15

How is Von Willebrand disease managed?

Answer 15

• Desmopressin.

- Recombinant vWF or a combo of vWF and factor VIII.

Question 16

Blood test results indicative of Vitamin K deficiency?

Answer 16

• Prolonged PT.
• Normal APTT, fibrinogen concentration and platelet count.
• Low Vitamin K-dependent coagulation factors.

Question 17

Which coagulation factors are vitamin K dependent?

Answer 17

II, VII, IX, X.

Proteins C and S.

Question 18

Paediatric liver cirrhosis in infants is most commonly due to?

Answer 18

Biliary atresia.

Inherited metabolic diseases.

Question 19

Paediatric liver cirrhosis in older children is most commonly manifestations of which diseases?

Answer 19

• Autoimmune hepatitis.
• Primary sclerosing cholangitis.
• Viral hepatitis.
• Wilson’s disease.

Question 20

How might you support a diagnosis of childhood cirrhosis?

Answer 20

• Deranged LFTs

+ prolonged PT not corrected despite adequate vitamin K administration (indicated poor liver synthetic function).

Question 21

What is idiopathic (immune) thrombocytopenic purpura?

Answer 21

Low number of platelets due to autoimmune destruction.

Question 22

How does ITP present?

Answer 22

• Bleeding, bruises and petechiae.

Question 23

Blood results suggestive of ITP?

Answer 23

• Thrombocytopenia (low platelet count) - usually isolated.
• Normal Hb.
• Normal leukocytes.

Question 24

Vitamin B12 deficiency causes what?

Answer 24

Megaloblastic anaemia.

Question 25

Cause of pernicious anaemia?

Answer 25

Atrophy of gastric mucosa > subsequent reduction in production of intrinsic factor (required for B12 absorption in ileum).

Question 26

Why does reduced intrinsic factor result in B12 deficiency?

Answer 26

Intrinsic factor is required for B12 absorption in the ileum.

Question 27

Blood / bone marrow results of someone with pernicious anaemia?

Answer 27

- Raised MCV. | - Megaloblasts in bone marrow.

Question 28

Causes of fragment cells?

Answer 28

- Prosthetic heart valves. - Renal dialysis. - Microangiopathic haemolytic anaemias.

Question 29

Sickle cell crises may be spontaneous or initiated by?

Answer 29

- Infection. - Cold. - Hypoxia.

Question 30

Symptoms of sickle cell?

Answer 30

- Chest pain. - Bone pain. - Priapism. More severe: - Neurological sequelae. - Hyposplenism (recurrent splenic infarcts).

Question 31

Rheumatoid arthritis + hypersplenism + neutropenia.

Answer 31

Felty's syndrome. | > Neutropenia with myeloid hyperplasia.

Question 32

Blood results of someone with lead poisoning?

Answer 32

- Sideroblasts. | - Basophilic stippling.

Question 33

Effects of lead poisoning?

Answer 33

- Inhibition of enzymes involved in haem synthesis > anaemia. - Inhibition of enzymes dispersing excess RNA > stippling (discrete blue particles).

Question 34

Describe the abnormal blood results of a patient with hookworm infection.

Answer 34

- Hypochromia. - Anisocytosis. - Poikilocytosis. Due to iron deficiency anaemia - hookworm infestation of duodenum is the most common infective cause worldwide.

Question 35

Causes of iron deficiency anaemia?

Answer 35

- Blood loss. - Poor dietary intake. - Decreased absorption.