3. DEFINITION
• Hereditory blood coagulation disorder due to deficiency
or reduced activity of clotting factor VIII.
• Slows down blood clotting process.
• X-linked recessive disorder.
• Transmitted via females to men who are sufferers.
4. TYPES
DISEASE FACTOR DEFICIENCY INHERITANCE
Hemophillia A VIII X linked recessive
Hemophillia B IX X linked recessive
Hemophillia C XI Autosomal recessive
Parahemophillia V Autosomal recessive
Acquired hemophillia Inhibitors to FVIII
6. GENETICS
INHERITANCE- Both hemophillia A and B are XLR
diseases.
Hemophillia A - Point mutation of FVIII gene in Chr X (most
common defect- 90-95%)
- Deletion of gene(5-10%)
Females- 2 copies of X chromosome. Therefore they are
carrier.
Males- sufferers.
PREVALENCE- Hemophillia A – 1/10000 males.
-Hemophillia B –1/30000 males. (1/6 th of
Hemophillia A).
7.
8. HEMOPHILLIA A
• Also known as classic hemophillia.
• FVIII deficiency.
Mild hemophillia A – No spontaneous bleeding.
Bleeding after surgery ,tooth extraction.
Moderate hemophillia A- Spontaneous bleeding.
Delayed oozing after minor injury.
Severe hemophillia A- Spontaneous joint or deep muscle
bleeding.
9. PATHOGENESIS
FVIII = vWF + VIIIc
synthesized by synthesized by liver
endothelial cells ( X linked gene)
megakaryocytes
(chr 12) responsible for
intrinsic pathway
responsible for
platelet adhesion deficient in
hemophillia A
responsible for formation of
hemostatic plug
10. CLINICAL PREENTATION
• Hemarthroses- Most common(70-80%)
• Affected joints- warm,swollen,tender with acute pain
• Hemophillic pseudotumors- Subperiosteal or fascial
hemorrhages leading to blood filled cyst.
• Intramuscular and subcutaneous bleeding.
• Hemorrhage- out of proportion to the injury.
• CNS bleeding- most serious complication.
• Epistaxis, bleeding from mouth, gums, tongue.
• Hemetemesis/ melena, hematuria- rare.
11. HEMOPHILLIA B
• Also called as CHRISTMAS DISEASE.
• Due to deficiency of FIX.
• X linked recessive.
• Clinical features- milder than hemophillia A.
21. CASE
• 5 year/male with bluish patches on arms and legs on
minor trauma.
• Joint swelling since 2 years of age.
• Investigations-
• PT- 14 sec ( normal – 11-16 sec)
• APTT- 75 sec ( normal – 25-32 sec)
• Fibrinogen- 2.65 g/l ( normal- 1.5-4 g/l)
• Platelet count – 370 x 109 / L
• DIAGNOSIS???
