Haemophilia Flashcards
(19 cards)
What is haemophilia?
Severe inherited bleeding disorders.
What are the 2 different types of haemophilia?
Haemophilia A and B.
What is haemophilia A caused by?
A deficiency of factor VIII.
What is haemophilia B caused by?
A deficiency in factor IX.
Also known as Christmas disease.
What type of disease is haemophilia?
X-linked recessive.
All X chromosomes need to have the abnormal gene to have haemophilia.
How does haemophilia affect males?
Males only have 1 X chromosome and require only one abnormal copy to have the disease.
How does haemophilia affect females?
Females have 2 X chromosomes, so when one copy is affected they are asymptomatic carriers of the gene.
Who does haemophilia primarily affect?
Haemophilia A and B primarily affect males.
What is required for a female to be affected by haemophilia?
An affected father and a mother who is either a carrier or affected.
What are the features of haemophilia?
Can bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma.
Most cases present in neonates or early childhood.
What can haemophilia present with in neonates?
Intracranial haemorrhage, haematomas, and cord bleeding.
What can spontaneous bleeding into joints lead to?
Joint damage and deformity.
This is known as haemarthrosis.
What can bleeding into muscles cause?
Compartment syndrome.
What are some other areas of bleeding in haemophilia?
Oral mucosa, nose bleeds (epistaxis), GI tract, urinary tract causing haematuria, intracranial haemorrhage, surgical wounds.
What is the diagnosis of haemophilia based on?
Bleeding scores, coagulation factor assays, genetic testing.
What would a blood test show in haemophilia?
Prolonged APTT, with bleeding time, thrombin time, and prothrombin time normal.
How is haemophilia managed?
The affecting clotting factors (VIII or IX) can be given by IV infusion, either regularly or in response to bleeding.
What is a complication of treatment for haemophilia?
The formation of antibodies (called inhibitors) against the treatment, resulting in it becoming ineffective.
