Haemophilia Flashcards
Which factor is deficient in haemophilia A?
Factor VIII
How is haemophilia A passed on?
X-linked recessive - 1/10000 male births
If a female carrier of haemophilia A had a son, what is the chance that her son will have haemophilia A?
50%
If a female carrier of haemophilia A gene defect had a daughter, what are the chances that the daughter will be a carrier?
50%
If a man had haemophilia A and had a daughter, would she be a carrier?
Yes - all daughters of men with haemophilia are carriers
What is classed as severe haemophilia A?
Levels <1 IU/dL of deficient factor
What is classed as moderate haemophilia?
Levels of 1–5 IU/dL of deficient factor
What is classed as mild haemophilia?
Levels above 5 IU/dL of deficient factor
What are features of haemophilia?
Increased preponderance to bleeding:
- Haemarthrosis
- Muscle haematoma
- CNS bleeding
- Retroperitoneal bleeding
- Post surgical bleeding
What can happen if haemarthrosis is left untreated?
Crippling joint deformity
What joints are most commonly affected by haemarthrosis in haemophilia?
Propensity for hinge joint
- Knees
- Elbows
- Ankles
Why might individuals with haemophilia have reduced muscle bulk?
Numerous episodes of immobility caused by haemarthrosis lead to muscle wasting
IF someone was having multiple spontaenous bleeds from early life, what might this indicate in terms of severity of haemophilia?
Severe haemophilia
What are complications of haemophilia?
- Synovitis
- Chronic Haemophilic Arthropathy
- Neurovascular compression (compartment syndromes)
- Stroke
What tests might you perform in someone you suspect has haemophilia?
- Bloods - Bleeding time, FBC, U+E’s, Clotting factors, PT, APTT, VWF
- Genetic testing
What might you see on investigation of PT in someone with haemophilia A?
Normal PT
What might you see on APTT in someone with haemophilia?
Increased APTT
What might the bleeding time of someone with haemophilia be?
Normal
What might you find on investigation of vWF in someone with haemophilia?
Normal
