Childhood Diseases : A Genetic Disorder

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Childhood diseases can be some of the most exhausting, stressful, and difficult situations that a family has to go through. It can affect them physically, emotionally, spiritually, and psychosocially. Sick children are more likely to have genetic diseases rather than environmental diseases due to the fact that they are young, and have been exposed to less harmful situations and organisms (Ament, 2003). Unfortunately, many times genetic diseases are fatal, debilitating, and incurable. One of these unfortunate diseases is called factor V Leiden thrombophilia.
Assessment:
Factor V Leiden thrombophilia is a genetic disorder that effects blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia,
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Once a thrombi detaches from the vessel wall and begins to circulate in the blood stream, it becomes an embolus (McCance, Huether, Brashers & Rote, 2010). This embolus can become lodged in smaller blood vessels, blocking blood flow to the local tissue. Common conditions for an embolus or thrombus blocking vital blood flow that patients can relate to, are heart attack and stroke.
Factor V Leiden is the most common inherited form of thrombophilia (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000 (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Although, only about 10 percent of individuals with the factor V Leiden mutation ever develop
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