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Pages:
1 page/β‰ˆ275 words
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Style:
APA
Subject:
Health, Medicine, Nursing
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Essay
Language:
English (U.S.)
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Topic:

Pathophysiology of Hemophilia

Essay Instructions:

QUESTION 5
Scenario 3: Hemophilia
8-month infant is brought into the office due to a swollen right knee and excessive bruising. The parents have noticed bruising about a month ago but thought the bruising was due to the attempts to crawl. They became concerned when the baby woke up with a swollen knee. Infant up to date on all immunizations, has not had any medical problems since birth and has met all developmental milestones.
FH: negative for any history of bleeding disorders or other major genetic diseases.
PE: within normal limits except for obvious bruising on the extremities and right knee. Knee is swollen but no warmth appreciated. Range of motion of knee limited due to the swelling.
DIAGNOSIS: hemophilia A.
Question
1. What is the pathophysiology of Hemophilia

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Pathophysiology of Hemophilia
Hemophilia is generally a bleeding disorder. In a child with hemophilia, blood clotting is limited. Therefore, a child will bleed spontaneously in the occurrence of minor injuries or surgery (CDC, 2020). In the blood, several proteins help in clotting. These proteins are called clotting factors. They include factor eight (VIII) and factor nine (IX). The number of clotting factors that a child has determined the severity and extent of hemophilia. The lesser the number and amount of the clotting factors, the more bleeding will occur, leading to adverse and severe health complications (CDC, 2020).
Hemophilia is usually inherited and acquired from a gene mutation. The genes are responsible for giving instructions needed to mutate the clotting proteins. Blood clotting is therefore affected. The genes are found on the X chromosome, which means that males are most likely to develop hemophilia since they have a single copy of the X chromosome while females have two (Melchiorre et al., 2017). Males develop hemophilia when they inherit an X chromosome, possessing a mutation on factor VIII and IX genes (Calcaterra et al., 2020). Females develop hemophilia when both of their X chromosomes are affected or in instances wher...
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