Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Gwen - Haematology > Haemophilia > Flashcards

Haemophilia Flashcards

1
Q

Which factor is deficient in haemophilia A?

A

Factor VIII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How is haemophilia A passed on?

A

X-linked recessive - 1/10000 male births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

If a female carrier of haemophilia A had a son, what is the chance that her son will have haemophilia A?

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

If a female carrier of haemophilia A gene defect had a daughter, what are the chances that the daughter will be a carrier?

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

If a man had haemophilia A and had a daughter, would she be a carrier?

A

Yes - all daughters of men with haemophilia are carriers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is classed as severe haemophilia A?

A

Levels <1 IU/dL of deficient factor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is classed as moderate haemophilia?

A

Levels of 1–5 IU/dL of deficient factor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is classed as mild haemophilia?

A

Levels above 5 IU/dL of deficient factor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are features of haemophilia?

A

Coagulation type bleeding.

Increased preponderance to bleeding:

  • Haemarthrosis
  • Muscle haematoma
  • CNS bleeding
  • Retroperitoneal bleeding
  • Post surgical bleeding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What can happen if haemarthrosis is left untreated?

A

Crippling joint deformity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What joints are most commonly affected by haemarthrosis in haemophilia?

A

Propensity for hinge joint

  • Knees
  • Elbows
  • Ankles
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Why might individuals with haemophilia have reduced muscle bulk?

A

Numerous episodes of immobility caused by haemarthrosis lead to muscle wasting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

IF someone was having multiple spontaenous bleeds from early life, what might this indicate in terms of severity of haemophilia?

A

Severe haemophilia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are complications of haemophilia?

A
  • Synovitis
  • Chronic Haemophilic Arthropathy
  • Neurovascular compression (compartment syndromes)
  • Stroke
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Diagnosis of haemophillia

A
  • Clinical - normal child, refusing walk, blend into knee (even if no family history don’t be put off the diagnosis)
  • Screening tests
    • ​Prolonged APTT
    • PT
  • REDUCED factor 8 or factor 9
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What tests might you perform in someone you suspect has haemophilia?

A
  • Bloods - Bleeding time, FBC, U+E’s, Clotting factors, PT, APTT, VWF
  • Genetic testing
17
Q

What might you see on investigation of PT in someone with haemophilia A?

A

Normal PT

18
Q

What might you see on APTT in someone with haemophilia?

A

Increased APTT

19
Q

What might the bleeding time of someone with haemophilia be?

A

Normal

20
Q

What might you find on investigation of vWF in someone with haemophilia?

A

Normal

21
Q

How would you manage haemophilia A?

A
  • Recombinant factor VIII - IV infusion 9given at least 3 times a week)
  • Tranexamic acid (inhibits fibrinolysis)
  • DDAVP (mild haemophillia, von willebran disease, or pre-surgery) (induces release of von willebrand)
  • Specific management for joint problems
22
Q

What are specific treatments used for management of haemarthrosis?

A
  • Splints
  • Physiotherapy
  • Analgesia
  • Synovectomy
  • Joint replacement
23
Q

What is DDAVP?

A

Desmopressin

24
Q

When is DDAVP used?

A

Mild haemophilia A

25
Q

What is tranexamic acid?

A

Synthetic analog of the amino acid lysine. It serves as an antifibrinolytic by reversibly binding four to five lysine receptor sites on plasminogen or plasmin. This prevents plasmin (antiplasmin) from binding to and degrading fibrin and preserves the framework of fibrin’s matrix structure.

26
Q

What factor is deficient in haemophilia B?

A

Factor IX

27
Q

How is haemophilia B inherited?

A

X-linked recessive inheritence

28
Q

How would you manage haemophilia B?

A
  • Rcombinant factor IX - IV infusion
  • Tranexamic acid
  • Specific management for joint problems
29
Q

What are side effects of using DDAVP?

A
  • MI
  • Hyponatraemia - due to water retention
30
Q

What treatments/medications should you avoid giving/doing in someone with haemophilia?

A
  • NSAIDs
  • IM injections
31
Q

How is desmopressin useful in treating haemophilia A?

A

Raises factor VIII

Gwen - Haematology (33 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions