Coagulation Factor VIII gene, Procoagulent component
The factor VIII gene provides the instructions for the production of the normal coagulation factor VIII protein. Factor VIII is a clotting factor that is essential to coagulation, just as all clotting factors are. When an injury occurs the blood clot serves to patch up broken blood vessels and attempt to stop the bleeding [1].
Mutations in Factor VIII
Most mutations in the factor VIII gene cause Hemophilia A. Hemophilia A has many different molecular genetic mechanisms due to all the different intensities seen in those affected. More than 13000 different mutations have been found that cause Hemophilia A. Insertions, deletions, and single base pair changes are often seen in the factor VIII gene sequence of those suffering from mild or moderate intensities of Hemophilia A. These types of mutations are known to decrease the amount of factor VIII produced. Those who have severe cases of the disease more often have a large inversion in the factor VIII gene. This inversion changes most of the sequence of the factor VIII, and cuts off factor VIII production either partly or completely [5].
Gene
References
[1] http://www.uniprot.org/uniprot/P00451
[2] U.S. National Library of Medicine, Genetics Home Reference. (2010). F8. Retrieved from website: http://ghr.nlm.nih.gov/condition/hemophilia
http://omim.org/entry/300841
[3] Bagg, Adam. (2007) Molecular Pathology in Clinical Practice. Springer. [book]
[5] Hemophilia A. (2010). Unpublished manuscript, Georgia Gwinnett College, Lawrenceville, GA, Retrieved from http://wiki.ggc.edu/wiki/Hemophilia_A
[2] U.S. National Library of Medicine, Genetics Home Reference. (2010). F8. Retrieved from website: http://ghr.nlm.nih.gov/condition/hemophilia
http://omim.org/entry/300841
[3] Bagg, Adam. (2007) Molecular Pathology in Clinical Practice. Springer. [book]
[5] Hemophilia A. (2010). Unpublished manuscript, Georgia Gwinnett College, Lawrenceville, GA, Retrieved from http://wiki.ggc.edu/wiki/Hemophilia_A