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Hemophilia - College Essay

Hemophilia


In the human body, each cell contains 23 pairs of chromosomes, one of each pair inherited through the egg from the mother, and the other inherited through the sperm of the father. Of these chromosomes, those that determine sex are X and Y. Females have XX and males have XY. In addition to the information on sex, 'the X chromosomes carry determinants for a number of other features of the body including the levels of factor VIII and factor IX.'1 If the genetic information determining the factor VIII and IX level is defective, haemophilia results. When this happens, the protein factors needed for normal blood clotting are effected. In males, the single X chromosome that is effected cannot ...

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of the
cases, this coagulant protein is reduced but in a rare amount of
cases, this protein is present by immunoassay but defective.4
Haemophilia A is the most common severe bleeding disorder and
approximately 1 in 10,000 males is effected. The most common types
of bleeding are into the joints and muscles. Haemophilia is severe
if the factor VIII:C levels are less that 1 %, they are moderate if
the levels are 1-5% and they are mild if they levels become 5+%.5
(2)
Those with mild haemophilia bleed only in response to major trauma
or surgery. As for the patients with severe haemophilia, they can
bleed in response to relatively mild trauma and will bleed
spontaneously.
In haemophiliacs, the levels of the factor VIII:C are reduced.
If the plasma from a haemophiliac person mixes with that of a
normal person, the Partial thromboplastin time (PTT) should become
normal. Failure of the PTT to become normal is automatically
diagnostic of the presence of a factor VIII inhibitor. The ...

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PAPER DETAILS
Added: 12/6/2006 08:27:17 PM
Category: Science & Nature
Type: Premium Paper
Words: 1118
Pages: 5

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