Haemophilia

Question 1

Define:

Answer 1

Bleeding diathesis due to a deficiency in a clotting factor

Question 2

What are the types of haemophilia:

Answer 2

A - this is the most common and due to a deficiency of F8
B- due to a deficiency of F9
C- Very rare due to deficiency of F11

can be acquired due to - DIC, liver failure or low vitamin K

Question 3

Aetiology/risk factors:

Answer 3

X-LINKED RECESSIVE.

This means that it is most commonly seen in men

Question 4

Epidemiology:

Answer 4

• Haemophilia A incidence: 1/10,000 males
• Haemophilia B incidence: 1/25,000 males
• Haemophilia C is more common in Ashkenazi Jews

Question 5

Symptoms:

Answer 5

Starts either in childhood or post trauma or surgery

Painful swelling of joints after minimal trauma (haemarthoses)

Painful bleeding into muscles - haematomas- these can lead to nerve compression leading to palsies and compartment syndrome

Easy bleeding and bruising after surgery or trauma

Haematuria

Female carriers are usually asymp but can have excessive bleeding after trauma

BLEEDING IS DEEP INTO MUSCLE AND BONE

Question 6

Signs:

Answer 6

Joint deformity 
Haemarthroses 
Muscle Haematoma 
Signs of iron deficiency 
Nerve palsies 
Multiple bruises

Question 7

Investigations:

Answer 7

Clotting screen - APTT will be increases as F8 and 9 are in the intrinsic pathways. PT i s normal PT (no issues in the extrinsic pathway)

Coagulation assays

Investigate complications