Overview of Hemophilia

One mutation in a blood clotting factor lead to the death of many historical figures. People named the mutation “Queen Victoria’s Gene”. The gene genetically passed down through the generations, profoundly affecting history. Hemophilia is the scientific name for this genetic disease. The genetics of this gene are foundational to understanding anything about Hemophilia. Hemophilia is a sex-linked genetic disease. Meaning the gene is carried on the X chromosome. Males are more susceptible to the disease because they only have one X chromosome while females have two. If a male receives an X chromosome with the defect, he will be hemophilic. If a female receives an X chromosomes with the defect, her other X chromosome would dominate, leaving the female as a carrier of the gene (Carriers, “Individuals who have only one copy of the recessive, disease causing allele for a particular genetic disease). To run the point home, the son of a mother who carries of the gene and an unaffected (Unaffected Individuals, “Individuals who do not have an allele for a particular genetic disease) father is 50% likely to suffer with Hemophilia. While the daughter is 0% likely to be affected and 50% likely to carry the gene. The only way a female could be affected by Hemophilia is if both her mother was a carrier or affected by the gene and her father had the defect. Fascinatingly, one third of people diagnosed with the Hemophilia have no family history of it. The cause of their mutation is completely spontaneous. In American, 1 in 5,000 male births are affected by the disease. About 400 American babies are born with it ea...

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Works Cited

Britton, B. (2003). Hemophilia. Lucent Books.
Ph.D, J. P. (2005). Gene Therapy; Treating Disease by Repairing Genes. Facts on File.
Potts, D. P. (1995). Queen Victoria's Gene; Haemophilia and the Royal Family. Alan Sutton Publishing Limited.
Webpages
http://www.cdc.gov/ncbddd/hemophilia/data.html (Centers for Disease Control and Prevention) http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/definition/con-20029824 (Mayo Clinic) http://www.medicinenet.com/hemophilia/page5.htm (Medicinenet) http://www.nlm.nih.gov/medlineplus/ency/article/000538.htm (MedlinePlus) http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=2&contentid=5&rptname=bleedingtp://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/ (Nation Foundation for Hemophilia) http://www.webmd.com/a-to-z-guides/understanding-hemophilia-treatment (Web MD)