Heamophillia

Question 1

Define Heamophillia

Answer 1

A bleeding disorder, X linked recessive inheritance, resulting in coagulation factors deficiencies (in the coagulation cascade)
heamphillia A-factor 8
heamophillia B-factor 9

Acquired haemophilia exists-rarer and AID

Question 2

Aetiology and risk factors of haemophilia

Answer 2

X-linked recessive -boys are exclusively affected, but women can show mild sign in heterozygous
causes abnormal activation of clotting cascade-much slower than usual-excessive bleeding
Heamophillia A-factor 8
Heamophillia B-factor 9

Risk factors
only men (women omega rare)
Onset as a baby
FHx of haemophilia on maternal side

Question 3

Epidiemology of haemophilia

Answer 3

about 1 in 5000 men/boys for A
B is 1 in 30 000

UK -about 6000 people have it currently
about 2 million in the world total

nearly always men-rare cases of women exist

Question 4

Signs and Sx of heamophillia

Answer 4

recurrent and overly severe bleeding
Very common nose bleeds, gums
Easy bruising
Bleeding after small trauma that doesn’t stop
classically-bleeding that stops for a bit, then restarts

Fatigue, pallor, (aneamia)
tachycardia, tachypnea, hypotenuse hypovalemia

Unusual sites-joints and muscle bleeds (Presents with swelling of the joints (commonly knees, elbow, and ankles) with associated pain)
Spontaneous

GI bleeds (Malena, heamatocezia), heamatouria

often present in children-so prolonged bleeding after heel prick, circumcision
New born with intracranial bleeding

Thombocytopenia/VWD can also present with spontaneous bleeds -more commonly Than haemophilia-investigations are main difference

Question 5

Investigations of heamophillia

Answer 5

aPTT-prolonged
Factor 8 and 9 assay-one of the two is super low

FBC-Hb normal, or low if bleeding was severe/prolonged
PT/WVF/F10,7,5,11,12-nromal
platelet agregation-nromal
LFT-nromal