Genetics affects how the hemophilia is passed


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Patient Scenario
Twenty year old male comes on with episodes of spontaneous bleeding in the form of nose
bleeds, ecchymosis, and joint pain and swelling. He is an active individual and plays contact sports
regularly. He is concerned about his activity and the bleeding. His Grandfather had hemophilia disorder
but his mother has never been diagnosed with it. He presents to the office today with questions and
Hemophilia and Genetics
Hemophilia is a disorder that affects people around the world and is a genetic disorder and there are
two types hemophilia A and hemophilia B. “Both are X chromosome linked recessive traits, and affected
males have very low levels of factor VIII or IX” (McPhee & Hammer, 2012, p.121 ). With hemophilia
patients have a high risk of bleeding that could potentially be life-threatening because the clotting
process of has been altered. There are many even royals lines in history that have suffered from this
Genetics affects how the hemophilia is passed to person to person and affects more males than females.
“Point mutations are the most commonly found factor VIII and IX gene mutations but to the chromosomal
aberrations, including deletions, insertions, and rearrangements or inversions have also been
identified” (Stachnik, 2010, p.218). The symptoms and alterations can differ based on whether the
patient is a carrier or not. They may not have the high risk of spontaneous bleeding but still need to
be monitored during trauma or injury. Patients with hemophilia or carriers who are having children
should have genetic testing as an option for the child to better treat and manage the hemophilia early.
Pathophysiology and Cellular Alterations
The alteration of hemophilia is that the body’s natural clotting pathway is disrupted and
cannot function properly due to the alterations in the factor VIII and IX gene mutations. At the
cellular level, the gene mutation occurs when the DNA sequence is inhibited and certain amino acids are
not formed or mapped correctly. This causes gene alteration which then alters the cellular makeup of
the nucleus changing the cell’s functionality and code. Clotting factors have specific functions and
clotting times which normal platelets perform at the sign of injury, or need to clot to protect the
body. When the cellular alterations occur the body is unable to intact the clotting sequence (Heuther &
McCance, 2012, p. 37). Hemophilia can be treated be indentifying the genetic condition, Type A or B,
and whether the condition is indeed inherited or acquired.
Huether, S. E., & McCance, K. L. (2012). Understanding pathophysiology (Laureate custom ed.). St.
Louis, MO: Mosby.
McPhee, S. J., & Hammer, G. D. (2012). Pathophysiology of disease: An introduction to clinical medicine
(Laureate Education, Inc., custom ed.). New York, NY: McGraw-Hill Medical.
Stachnik, J. (2010). Hemophilia: Etiology, complications, and current options in management. Formulary,
45(7), 218-227.
Colon Cancer
Colon cancer is the third most common type of tumor in the world (Ben-Ishay, Peled, Othman,
Brauner, & Kluger, 2013) and accounts for a large number of deaths. There are approximately 55,000
deaths (Cappell, 2005) in the United States each year from the disease and there is additional
morbidity from surgery and other curative treatments. The risk of colon cancer during a lifetime is
approximately one in seventeen. Many patients could be cured if they received early screening and
removal of premalignant polyps. Private insurance and Medicare pay for these screenings which can
detect early colon cancer at a curable stage and health care providers should be explaining the
importance of screening to their patients.

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