Question

What is the clinical deficiency presented by hemophilic people? What is the genetic cause of that deficiency?

Answer 1

Factor VIII [FVIII], FIX, von Willebrand) are the main deficiency presented by the hemophilic people. Along with they show responsiveness towards desmopressin acetate (DDAVP). The haemophilia is the genetic disorder which causes impairement in the body's ability to make blood clots.

Genetic cause of hemophilia is X- linked recessive disorder. Changes in the gene F8 and F9 causes hemophilia.As gene F8 is responsible for expression of Factor 8, and F9 is resposible for factor 9. Occurence of mutation in both gene can only cause henophilia. So mutation in these gene causes abnormal version of coagulation factor VIII or coagulation factor IX, and reduces its participation effectively in the blood clotting proces. Due to which there is no clotting formation in response to injury and excessive blood can be lost and person can die.