Haemophilia (zero to finals) Flashcards

1
Q

Haemophilia A is caused by a deficiency of what coagulation factor?

A

Caused by a deficiency of factor VIII.

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2
Q

Haemophilia A is caused by a deficiency of what coagulation factor?

A

Caused by a deficiency of factor IX.

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3
Q

What is haemophilia A and B?

A

Haemophilia A and B are severe inherited bleeding disorders.

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4
Q

What is the inheritance pattern for haemophilia?

A

Both haemophilia A and B are X-linked recessive diseases.

All X chromosomes need to have the abnormal gene to have haemophilia.

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5
Q

Why are males most commonly affected by haemophilia?

A

Males only have one X chromosome and require only one abnormal copy to have the disease.

Females have two X chromosomes, so when one copy is affected, they are asymptomatic carriers of the gene.

Therefore, haemophilia A and B primarily affect males. For a female to be affected, they would require an affected father and a mother who is either a carrier or affected.

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6
Q

What are those with haemophilia most at risk of?

A

Both haemophilia A and B are severe bleeding disorders.

Patients can bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma.

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7
Q

When do most haemophilia cases commonly present?

A

Most cases present in neonates or early childhood. It can present with intracranial haemorrhage, haematomas and cord bleeding in neonates.

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8
Q

How can haemophilia lead to joint damage and deformity?

A

Spontaneous bleeding into joints (haemarthrosis) such as the ankle, knee or elbow.

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9
Q

How can haemophilia lead to compartment syndrome?

A

Bleeding into the muscles can cause compartment syndrome.

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10
Q

Apart from the joints and muscles, what other areas of bleeding can be present?

A

Other areas of bleeding include:

  • Oral mucosa
  • Nosebleeds (epistaxis)
  • Gastrointestinal tract
  • Urinary tract, causing haematuria
  • Intracranial haemorrhage
  • Surgical wounds
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11
Q

How is haemophilia diagnosed?

A

Bleeding scores, coagulation factor assays and genetic testing.

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12
Q

What is the management of haemophilia and what is a complication of this?

A

The affected clotting factors (VIII or IX) can be given by intravenous infusion, either regularly or in response to bleeding.

A complication of this treatment is the formation of antibodies (called inhibitors) against the treatment, resulting in it becoming ineffective.

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