Haemophilia

Question 1

Define Haemophilia?

Answer 1

Bleeding diatheses resulting from an inherited deficiency of a clotting factor

Question 2

What are the three subtypes of Haemophilia?

Answer 2

Haemophilia A: Most common - deficiency in factor 8
Haemophilia B: defiiency in factor 9
Haemophilia C: RARE - deficiency in factor 11

Question 3

What is the aetiology of Haemophilia?

Answer 3

Haemophilia A and B have X-linked recessive inheritance
30% of cases are new mutations
Due to its inheritance pattern, Haemophilia is mainly seen in MALES

Question 4

What is the epidemiology of Haemophilia?

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

When do symptoms usually begin for Haemophilia?

Answer 5

Early childhood

Question 6

What are the presenting symptoms of Haemophilia?

Answer 6

Haemarthroses
Painful bleeding into muscles
Haematuria
Excessive bruising or bleeding after surgery or trauma
Female carriers are usually asymptomatic but may experience excessive bleeding after trauma
Generally speaking, bleeding in haemophilia is DEEP (into muscles and joints)

Question 7

What is Haemarthroses?

Answer 7

Swollen painful joints occuring spontaneously or with minimal trauma

Question 8

What are the signs of Haemophilia on physical examination?

Answer 8

Multiple bruises
Muscle haematomas 
Haemarthroses
Joint deformirt 
Nerve palsies (due to nerve compression by haematomas)
Signs of iron deficiency anaemia

Question 9

What are the investigations for Haemophilia?

Answer 9

Clotting Screen (high APTT)
Coagulation factor assays (low factor 8,9 or 11 (depending on type of Haemophilia))
Other investigations may be performed if there are complications (e.g. arthroscopy)