There is enough research evidence to support phenotypic chan

There is enough research evidence to support phenotypic changes in hemophiliacs with Factor V Leiden mutations. What are some suggestions as to why this might happen? Be sure to describe the normal symptoms of hemophilia and how protein levels are affected to support your answer.

Solution

Heamophilia is the most common hereditary disease associated with life threatening bleeding caused due to mutations in factors of blood coagulation like factor V, factor V|||. The genetic lesions including the delition, non sense mutations that creates stop codons and mutations causes the errors in mRNA splicing. Detection of factor V protein levels may be normal by immunoassay in association with point mutations. Symptoms are, tendancy towards easy bruising and massive hemorrhage ofter trauma or operative procedures. Spontaneous hemorrhage frequently occur in the regions of the body that are susceptible to trauma. Bleeding from joints also seen, leads to progressive deformities that can be crippling Petechiae are absent. Patients have prolonged PTT and normal PT, results that point to an abnormality of the intrinsic coagulation pathway. Treatment of heamophilia is, infusion of recombinant factors. Antibodys are developed and that binds to factors and inhibit them.