Haemophilia

Follow Atifa Ambreen:
Youtube: https://www.youtube.com/channel/UCVTn-4KeMtXKy1h3_9JbVmw
Facebook: https://www.facebook.com/atifaambreen786/
Instagram: https://www.instagram.com/atifa.ambreen/
https://www.instagram.com/invites/contact/?i=1qo1my1nb2qfx&utm_content=kbo8bi7
Snapchat: https://www.snapchat.com/add/atifa.ambreen
Twitter: https://twitter.com/atifa_ambreen

SUBSCRIBE ...
.
Email for inquiries: [email protected]

1. HAEMOPHILIAHAEMOPHILIA

3. Haemophilia AHaemophilia A
Inherited bleeding disorder.Inherited bleeding disorder.
X linked recessive trait.X linked recessive trait.
Males and Homozygous females.Males and Homozygous females.
Bleeding is inversely correlated with Bleeding is inversely correlated with
residual factor VIII deficiency.residual factor VIII deficiency.

5. Clinical SeverityClinical Severity
<2 U/dl<2 U/dl
2 – 10 U/dl2 – 10 U/dl
>10- 30 U/dl>10- 30 U/dl
Severe: Frequeny Severe: Frequeny
spontaneous bleedingspontaneous bleeding
Moderately severe: Moderately severe:
Some spontaneous Some spontaneous
bleeds, bleeding after bleeds, bleeding after
minor trauma.minor trauma.
Mild: bleeding after Mild: bleeding after
surgery or traumasurgery or trauma

6. PathophysiologyPathophysiology
Lack of factor VIII as a Lack of factor VIII as a
cofactor drastically slows cofactor drastically slows
the the rate of generation of the the rate of generation of
factor Xa.factor Xa.

7. PathophysiologyPathophysiology
Extrinsic pathway produces a limited initial Extrinsic pathway produces a limited initial
burst of thrombin activation.burst of thrombin activation.
This is reinforced and amplified by a This is reinforced and amplified by a
feedback loop whereby thrombin activates feedback loop whereby thrombin activates
factors XI and IX of the intrinsic pathway.factors XI and IX of the intrinsic pathway.
High levels of thrombin are required to High levels of thrombin are required to
activate TAFI that augments fibrin activate TAFI that augments fibrin
depositiondeposition

8. CLINICAL PRESENTATIONCLINICAL PRESENTATION
Cephalohaematoma.Cephalohaematoma.
Prolonged cord bleed.Prolonged cord bleed.
Prolonged bleeding after circumcision.Prolonged bleeding after circumcision.
Large bruisesLarge bruises
Bleeding after minor traumaBleeding after minor trauma
Joint bleedsJoint bleeds
Joint deformitiesJoint deformities

9. Cephalohaematoma.Cephalohaematoma.

13. Laboratory DiagnosisLaboratory Diagnosis
Bleeding time: NormalBleeding time: Normal
Coagulation Profile:Coagulation Profile:
PT – NormalPT – Normal
APTT – ProlongedAPTT – Prolonged
Mixing Studies with normal, aged and Mixing Studies with normal, aged and
adsorbed plasmaadsorbed plasma
Factor AssayFactor Assay