Hemophilia

 

 

Hemophilia is the deficiency of clotting factors VIII (hemophilia A) and IX (hemophilia B) with the following clinical features- massive bleeding following trauma or surgical procedures, spontaneous hemorrhages into regions of the body to include joints which cause deformities. The bleeding time and partial thromboplastin time are normal. Its gene is on chromosomes called HEMA 2 and it encodes for factor VIII in hemophilia A. Factor VIII is synthesized in the hiver. It is involved in blood coagulation and its absence is enough to disrupt completely the processes of coagulation and hence the disease of hemophilia is a disease of coagulation. Plasma and plasma products were used as early as the 1980s to treat hemophilia because they contain the factors not present in hemophilia A (such as factor VIII). Later they have beem replaced with recombinant Factor VIII which is still being used today to treat hemophilia A, but the whole world awaits the development of gene therapy which is presently at the clinical trial stage.

 

 

 

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