In a patient with hemophilia, what clotting factor is affected and explain the pathophysiology of this...

In a patient with hemophilia, what clotting factor is affected and explain the pathophysiology of this disease.

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Hemophilia A is also known as classic hemophilia. It is a bleeding disorder that occurs due to deficiency of factor VIII/mutation in F8 gene. It is an X- linked recessive hereditary disease. Women are carriers and generally do not suffer from disease as they protected by the second X chromosome which is usually normal.

Christmas disease ( Hemophilia B)

Hemophilia B occurs due to deficiency of factor IX ( antihemophilic factor-B)/mutation in F9 gene This is a sex linked recessive hemorrhagic disease.

This disease is clinically indistinguishable from hemophilia-A

Pathophysiology of Hemophilia A

Approximately 90% of the cases comes due to the deficiency of factor VIII. And almost 10% comes due to reduction of factor VIII activity. It is synthesized in hepatic parenchymal cells and kidney complexed with Von willebrand factor( synthesized in endothelial cell). VIII-vWF activates the factor X in the intrinsic pathway and coagulation.

Where as deficiency of vWF cause Von willebrand disease, that is autosomal recessive disorder.

Nightingale answered 1 year ago

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