Hemophilias Introduction

Hemophilia
Inherited
X-linked (recessive)
A&B

Autosomal
C

Single factor deficiencies

Anatomic soft tissue
bleeding

Hemophilia
Hemophilia A
Factor VIII Deficiency
Antihemophilic Factor
X-linked recessive disorder
Most common type of hemophilia

Hemophilia B
Factor IX Deficiency
Christmas Factor (from family of first patients diagnosed with the
disorder)
X-linked recessive disorder

Hemophilia C
Factor XI Deficiency
Autosomal recessive disorder seen primarily in the Ashkenazi
Jewish population
Symptoms range from mild to severe

Sign and symptom

Nosebleeds
Bruising, especially a large, lumpy bruise
Bleeding for no known reason
Blood in the urine or stool
Bleeding that does not stop after getting a cut, having a
tooth out, getting an injury to the mouth or having
surgery
Bleeding that does not stop after circumcision
Bleeding into a joint, which can cause tightness, swelling
and pain

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How to diagnose??
- family history of bleeding
- one third have no family history of bleeding ( mutation)?
- laboratory :
-

complete blood count

Activated Partial Thromboplastin Time (APTT) Test (longer)
Prothrombin Time (PT) Test (normal)
cloting factor (longer)
VIII and IX factor

Classification of hemophilia based on biological F VIII and F

F VIII/FIX
Concentration
Severe
hemophilia

< 0.01 IU/ml

< 1% of normal

Moderate
hemophilia

0.01 0.05
IU/ml

2 5% of
normal

Mild hemophilia

0.05 0.4 IU/ml

5 40 % of
normal

Committee of the International Society of Thrombosis and

Haemostasis

Bleeding Manifestation in Hemophilia

Serious

Life -treatening

Joint
Muscle
Mouth/gums/no
se
Hematuria

Central
Nervous
System (CNS)
Gastrointestinal
Neck/throat
Severe trauma

Incidence of different site of

bleeding
hemarthrosis

: 70%- 80%
Muscle/soft tissue
: 10% - 20%
Other major bleeds : 5% - 10%

Central nervous System

:<

Symptoms of intracranial
hemorrhage
A bad headache
Vomiting
Confusion
Fitting (Convulsion)
Loss of balance
Slurred speech, or other speaking difficulties
Stiff neck
Vision problems
Loss of coordination
Some of the facial muscles do not work (sometimes all of them)

Treatment
1. RICE METHODE
R: REST
I: ICE
C: COMPRESSION
E: ELEVATION
2.VIII and IX Factor
3. Transfussion if needed

F VIII and F IX dosing

Hemohilia A :
- F VIII initial dose 20-25 IU/kg
- repeated bolus dosing every 6-8 hours
Hemophila B :
- r FIX initial dose 50 IU/kg
- recurrent infusion every 18-24 hours
Monitoring FVIII, FIX, Plt, PT, aPTT, D dimer, etc.

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Thank you

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