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HemophiliaDone By :

Sinan Abdulhammed

2Definition

bleeding disorders due to inherited deficiencies of coagulation factors

3Causes

Inherited as a sex linked recessive trait with bleeding manifestations only in males.female carriers transmit the abnormal gene. genes which control factor VIII and IX production are located on the x chromosome; if the gene is defective synthesis of these proteins is defective

4Types

Disease Factor deficiency

Haemophilia A VIII[8]

Haemophilia B IX[9]

Haemophilia C XI[11]

After injury, the initial hemostatic event is formation of the platelet plug, together with the generation of the fibrin clot that prevents further hemorrhage. In hemophilia A or B, clot formation is delayed and is not robust.

PATHOPHYSIOLOGY

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6PATHOPHYSIOLOG

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7Clinical Features

Bleeding in : ●Joints (Hem arthrosis) ● muscle or soft tissue ●Abdomen ●GI tract ●Intracranial*Serious* ●Around vital structures in the neck

8Severity

severity is dependent on blood levels of functioning factor VIII or IX

% normal factor level

Causes of bleeding

Severe < 1% bleeding after trivial injury or spontaneous

Moderate 1 - 5% bleeding after minor injury; occasional spontaneous bleeds

Mild 6 - 30 % following major trauma, surgical or dental procedures

9Diagnosis

● family history.

●measuring the level of factor activity in

the blood.

●prolongation of APTT.

●All other screening tests of with in normal

limit.

10Management

Replacement of missing clotting factor Plasma products Cryoprecipitate Concentrates of Factor VIII Factor IX.

Desmopressin Treatment of a Specific Bleeding Site

11Complication

Progressive destruction of a jointnerve compression, contractureICH & DeathDeafness

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