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 prem
The primary symptom of hemophilia is uncontrolled bleeding. The disease can range in severity from a mild increase in bleeding, to massive bleeding from even a minor wound. Treatment involves blood or clotting factor transfusions, and this increases the risk of contracting HIV, hepatitis or other blood transmitted diseases. Since blood banks have started screening and treating blood for HIV, the infection rate has dropped to almost nothing. However,prior to 1985 almost half the hemophiliac population was infected with HIV.
Prior to 1960, treatment of hemophilia involved massive blood transfusions, which were largely ineffective and even dangerous, because of the huge volumes of blood needed to give the patient enough clotting factor VIII. In the sixties and seventies techniques were developed to give a concentrated form of clotting factor by isolating the protein from the blood plasma of numerous donors. Unfortunately this contributed to the HIV infection among hemophiliacs, sin
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