Haemophilia

Question 1

What are the two types of haemophilia?

Answer 1

Haemophilia A (factor VIII deficiency) and Haemophilia B (factor IX deficiency)

Both are severe inherited bleeding disorders.

Question 2

What type of inheritance pattern does haemophilia follow?

Answer 2

X-linked recessive

Males require only one abnormal X chromosome, while females require both to express the disease.

Question 3

Why do males primarily suffer from haemophilia?

Answer 3

Males have only one X chromosome, requiring only one abnormal copy to have the disease

Females have two X chromosomes and can be asymptomatic carriers.

Question 4

What is the pathophysiology of haemophilia?

Answer 4

Involves deficiencies in factor VIII or factor IX leading to ineffective clotting

It affects the intrinsic clotting cascade.

Question 5

When do most cases of haemophilia first present?

Answer 5

In neonates or early childhood

Symptoms may appear after minor trauma or spontaneously.

Question 6

What are typical symptoms of haemophilia?

Answer 6

• Severe epistaxis
• Bleeding gums
• Haematomas and ecchymosis
• Haemarthrosis
• Intramuscular bleeding
• Intracranial haemorrhage

Haemarthrosis refers to bleeding into joints, such as the knee, ankle, or elbow.

Question 7

What are some differential diagnoses for haemophilia?

Answer 7

• von Willebrand’s disease
• Vitamin K deficiency
• Hepatic disease
• Platelet disorders

Platelet disorders present with petechial haemorrhages rather than haematomas and haemarthroses.

Question 8

What findings can be expected in a full blood count (FBC) for a patient with haemophilia?

Answer 8

• Reduced Hb
• Low haematocrit
• Normal platelet count

Reduced Hb and haematocrit indicate recent or chronic bleeding.

Question 9

What coagulation test results would indicate haemophilia?

Answer 9

• Normal PT (extrinsic pathway)
• Prolonged APTT (intrinsic pathway)
• Reduced factor VIII or IX activity

APTT is specifically prolonged due to the intrinsic pathway involvement.

Question 10

What is the primary management for haemophilia?

Answer 10

IV infusion of clotting factors (VIII or IX)

This can be done prophylactically or in response to bleeding.

Question 11

What potential complication may arise from repeated infusions of clotting factors?

Answer 11

Antibody formation leading to ineffective treatment

Patients may develop antibodies against the infused factors.