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The genetic disorder which I have chosen as the subject of my report is hemophilia. There are two types of hemophilia, hemophilia-A and hemophilia-B. The clinical symptoms of both are very similar so for the purposes of this paper I have chosen to concentrate on hemophilia-A.
Hemophilia-A is an X linked bleeding disorder resulting from a defect in a protein known as coagulation factor VIII. Since the disorder is X linked it is expressed mainly in males, who must have mothers who are carriers. Females who express the disorder must have affected fathers and mothers who are carriers, or who are affected. The level of severity of the disorder breeds true in any given family, which indicates that the phenotypic expression of the disorder reflects the genetic defect. In about 5% of cases, hemophilia-A results from partial deletion of the factor VIII gene, and is severe. Other cases result from a single base mutation in the gene. This can result in nonsense mutations which result in......

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