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research presentation on hemophilia

Andrea Perez

on 8 April 2010

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Transcript of hemophilia

hemophilia what is it? a hereditary, genetic disease that impairs the body's ability
to control blood clotting/coagulation, which is used to stop the bleeding of a broken blood vessel.
(wikipedia) how does
it work? remember the way some of the
male flies would be born with white eyes? hemophilia works in a similar way. the disorder is recessive, sex-linked, and found in the x-chromosome, just like the white eyes in male flies. so, much like the white eyes, hemophilia occurs more in males than in females. here, you can see how the disorder is passed on to certain offspring, and how other offspring are unaffected. there are two types of bleeding disorders
associated with hemophilia: hemophilia a and hemophilia b. hemophilia a the symptons:

Bleeding into joints, with associated pain and swelling
Blood in the urine or stool
Gastrointestinal tract and urinary tract hemorrhage
Prolonged bleeding from cuts, tooth extractions, and surgery
Spontaneous bleeding

(google health) hemophilia b the symptons

Bleeding into joints and associated pain and swelling
Blood in the urine or stool
Excessive bleeding following cicumcision
Gastrointestinal tract and urinary tract and hemorrhage
Prolonged bleeding from cuts, tooth extractions, and surgery
spontaneous bleeding

(google health) so what causes the blood to
coagulate, and therefore, what's missing from the blood in people who have hemophilia? hemophilia a:

blood clotting factor VIII hemophilia b:

blood clotting factor IX Deletion – a part of the DNA blueprint for hemophilia is missing.
Duplication – a piece of F8 or F9 DNA is repeated.
Insertion – a small extra piece of DNA is added to the F8 or F9 gene.
Missense – a segment of the genetic code is changed, which leads to an error in the F8 or F9 protein.
Nonsense – a segment of the genetic code is changed and read as a premature “stop signal” in the gene, so that cells do not make the complete F8 or F9 protein, and instead make an incomplete protein. When a nonsense mutation is the cause of hemophilia A or B, the resulting disease is almost always severe.

(ataluren hemophilia genetic testing) DNA SEQUENCE MUTATION so what is the
dna mutation? so what does
it look like? by: Andy Perez
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