Hemophilia A Essay

Hemophilia A is a rare genetic disease that is characterized as a bleeding disorder. The disease, which presents itself in three different forms, mild, moderate, and severe, is dependent upon the production of the glycoprotein, coagulation factor viii. Although Hemophilia A produces a wide variety of serious symptoms, it is not necessarily fatal, and it is a direct result of a mutation that occurs on the gene F8 (4).
Hemophilia A can be distinguished into three forms: mild, moderate, and severe. Those diagnosed with the mild and moderate form, have a factor viii production which is 2-30% that of the normal amount of factor viii produced. Symptoms associated with these forms include excessive bleeding only after trauma or severe injuries. Those who are afflicted by the severe form, experience a factor viii production of less <1% of the normal
Factor viii is a non-enzymatic protein that travels in the bloodstream until it is stimulated by an injury to the blood vessels. In response, it interacts with the damaged blood vessel and sets off a series of chemical reactions that result in the formation of a blood clot (3). This gene can be mutated in a myriad of ways, including but not limited to, deletions, insertions, substitutions, and stop codons. A specific mutation in the translation of proteins includes R2307Q. This mutation is on the 2307th amino acid in the 2332 long amino acid chain. The R indicates that codon that encoded Arginine, was instead translated into Glutamine, or Q (1). Although these two amino acids are not largely different, Arginine is a positively charged basic amino acid while Glutamine is a neutrally charged neutral amino acid. This mutation alters the production of factor viii and makes less of the coagulation protein. In this specific mutation, the person had only 9% factor viii activity, therefore classifying them as a moderate hemophiliac