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Hemophilia

Hemophilia. Gabriel Vacaliuc, Ethan Kridelbaugh. Chad Kroeger:. Chad has suffered the effects of hemophilia since birth. He is one of the many hemophiliacs who have hemophilia A. Inheritance and Genes Affected:.

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Hemophilia

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  1. Hemophilia Gabriel Vacaliuc, Ethan Kridelbaugh

  2. Chad Kroeger: Chad has suffered the effects of hemophilia since birth. He is one of the many hemophiliacs who have hemophilia A.

  3. Inheritance and Genes Affected: This is a drawing of the F8 gene found on the ‘X-chromosome’ (23rd chromosome). The most common mutation for hemophilia A is a large inversion, but the most common for hemophilia B is a single point mutation. Both forms of hemophilia are X-linked recessive.

  4. : Not affected Family Pedigree: : Affected : Carrier Key Gabe Ethan Chad

  5. Family Pedigree Cont:

  6. Physiological Effects/Changes:Hemophilia A Hemophilia A is a sex-linked recessive trait that occurs in the F8 gene on the X-chromosome. In most cases of hemophilia A, the gene undergoes a large inversion, preventing creation of the blood clotting factor/protein Factor VIII. In milder cases of hemophilia A, the gene may just undergo a single point mutation or small deletions/insertions/substitutions. Where the F8 gene is located.

  7. Physiological Effects/Changes:Hemophilia B Hemophilia B is a sex-linked recessive trait that occurs in the F9 gene on the X-chromosome. In most cases of hemophilia B, the gene undergoes a single point mutation, preventing creation of the blood clotting factor/protein Factor IX. In more severe cases of hemophilia B, the gene may undergo small deletions/insertions/substitutions. Where the F9 gene is located.

  8. Physical and Behavioral Symptoms: In mild cases of hemophilia incidents only occur at times of cuts or bruising. In more severe cases of hemophilia, patients can experience pain in joints daily. There are no behavioral symptoms to hemophilia, although patients should be more careful with their body than others. Joint bleeding

  9. Quality of Life: With advances in medicine over the past 2 decades, patients now diagnosed with hemophilia can expect to live healthy and active lives. Hemophiliacs must be more careful in every day tasks than others, but otherwise function same as unaffected patients.

  10. Treatments: In the early days of hemophilia (before 1950’s) transfusions of entire blood plasma limited symptoms of hemorrhage (internal bleeding). During the 1950’s and 60’s the individual clotting factors were identified and eliminated the need for large volumes of blood. Since the 1990’s children diagnosed with hemophilia have been able to live healthy, long, and active lives, due to synthetic recombinant factors, and prophylaxis, a preventive treatment regimen. Long, healthy, and active lives!

  11. Sources/Bibliography Crosta, Peter. "What Is Hemophilia? What Causes Hemophilia?" Medical News Today. MediLexicon International, 22 June 2009. Web. 04 Mar. 2013. <http://www.medicalnewstoday.com/articles/154880.php>. "F8 Gene." Genetics Home Reference. U.S. National Library of Medicine, 25 Feb. 2013. Web. 04 Mar. 2013. <http://ghr.nlm.nih.gov/gene/F8>. "F9 Gene." Genetics Home Reference. U.S. National Library of Medicine, 25 Feb. 2013. Web. 04 Mar. 2013. <http://ghr.nlm.nih.gov/gene/F9>. "Hemophilia." - Genetics Home Reference. U.S. National Library of Medicine, 25 Feb. 2013. Web. 04 Mar. 2013. <http://ghr.nlm.nih.gov/condition/hemophilia>. Raabe, Michelle, Ph.D. Genes and Diseases: Hemophilia. New York: Chelsea House, 2008. Print. Willett, Edward. Diseases and People: Hemophilia. Berkeley Heights, NJ: Enslow, 2001. Print. "History of Bleeding Disorders." Hemophilia.org. National Hemophilia Foundation, n.d. Web. 05 Mar. 2013. <http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=178>.

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