Hemophilia

(Hemophilia)Coagulation disorders
• Factor VIII – Hemophilia A
• Factor IX - Hemophilia B
– Christmas disease
 Incidence
• X linked recessive
• 1 in 5000 males
• Approx. 80% have factor VIII deficieny
• 20% have factor IX deficiency
• In approx. 30%, no positive family history of
the disease - ? Genetic mutation.
• Factor VIII deficiency
– Factor VIII (antihemophilic factor) : protein that
circulates in the plasma and functions in the intrinsic
pathway of fibrin formation.

• Factor IX deficiency
– Factor IX – vitamin K dependent serine protease that
functions in the intrinsic pathway of fibrin formation
.
 Clinical symptoms
• Hemarthrosis, esp. in the knee – most
common feature of severe hemophilia.
• Subcutaneous hematomas – begin with slight
trauma and spread to involve a large mass of
tissue.
• Intramuscular hemorrhages – may result in
contracture and deformity
• Prolonged bleeding
– Primary hemostasis adequate to stop bleeding from a
minor cut, but because of deficient fibrin stabilization, the
platelet plug is dislodged – bleeding begins a second time.
• Hematomas around tongue and throat
• Hemorrhages from the nose, mouth, gums and other
mucous membranes
• Others : hematuria and excess bleeding from dental
extractions
 Laboratory aspects
• Laboratory screening tests –
– Prolonged APTT
– Platelet count – normal
– Bleeding time – normal
– PT – normal
• Definitive diagnosis –
– Specific factor assay
 DISSEMINATED INTRAVASCULAR COAGULATION (DIC)

Definition
• DIC is a thrombohemorrhagic disorder
• characterized by the excessive activation of
coagulation, which leads to the formation of
thrombi in the microvasculature of the body,
followed by hemorrhage
• Occurs as a secondary complication in some
systemic disease
 Etiology
• Massive tissue injury eg; obstetric
complications, massive trauma, malignancy,
surgery
• Infections: eg; gram negative septicaemia
• Widespread endothelial damage eg; severe
burns, acute glomerulonephritis
• Miscellaneous eg; snake bite, heat stroke
 Laboratory findings
• Platelet count: low
• Blood film: microangiopathic hemolytic
anaemia; presence of fragmented red cells
• PT and APTT prolonged
• Plasma fibrinogen level decreased
• Fibrin degradation products (FDP) raised.
Thank you