Inherited Coagulation Disorders Flashcards
Haemophilia A
➢Haemophilia A is an _________
bleeding disorder caused by
__________ or ________ factor _____ molecules or a combination of both
X-linked
defective synthesis
synthesis of dysfunctional
VIII
____________ is the commonest inherited
bleeding disorder after ______
Haemophilia A
vWD
Haemophilia A
➢F8 gene is located on ________
➢ pathophysiology is based on
insufficient generation of _______
by the ______ complex of the
_______ pathway
Xq28
thrombin
IXa/VIIIa
intrinsic
Haemophilia A
➢All sons of haemophilic males
with non-carrier wives are _____
➢All daughters of haemophilic males
with non-carrier wives are _______
normal
obligatory carriers
Haemophilia A
➢Sons of carriers have ____%
chance of being affected
➢Daughters of carriers have 50%
chance of being ______ if ________
50
carriers
father is normal.
Haemophilia A
✓Can result from multiple
alterations in the ____ gene:
✓Over _____ mutations noted
F8
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Haemophilia A
Carrier detection can be as below:
•Family history
•Carriers usually have _____% or (more or less?) of _______ levels
•________ technique to detect
the ____________
•Prenatal diagnosis through ________
50; less
factor VIII
Southern blot
intron 22 inversion
DNA analysis
Haemophilia A: Carrier detection
vWF:FVIII is (lower or higher?) in carriers
Higher
Clinical classification of haemophilia A
- Mild: factor level is _____% of normal
(0.06-0.3 U/ml); _______ spontaneous bleeds, secondary to _____ or ____ - Moderate: factor level is ___-___% of
normal (0.01-0.05 U/ml); ____
spontaneous bleeds, secondary to ______ or _______ - Severe: factor level is ____% of
normal (≤ 0.01 U/ml); spontaneous
bleeds from _______, requires
factor replacement
6-30; extremely rare ; trauma or surgery
1-5; occasional; trauma or surgery
≤ 1; early infancy
Haemarthrosis in Haemophilia A:
➢Accounts for approximately ____% of
bleeding episodes
➢_______ beneath the _____ easily damaged
75
Numerous capillaries; synovium
Haemarthrosis in Haemophilia A:
Affects which joint more?
Hinge or ball and socket
Hinge joints > ball & socket joints
Haemarthrosis in Haemophilia A:
Hips, knees, shoulder, elbows, wrists, ankles
➢arrange the joints in order of deacresing frequency:___,______,_____,______ ,_____,_____
knees, elbows, ankles,
shoulders, wrists and hips
Haemarthrosis in Haemophilia A:
➢Occurs when affected child ___________
begins
to walk
Haemarthrosis
➢Heralded by aura of ____ discomfort which progresses in _____-____ to _____ pains
➢Joint ———, (cold or warm?) , ____ motion
➢May experience (mild, moderate, severe?) fever
mild; minutes-hours ; severe
swells; warm; limited ; limited
Mild
Haemarthrosis
➢Repeated bleeds destroys the ———- and leads to ____________
articular cartilage ; synovial hyperplasia
