Transcript Hemophilia - trefzclasses

Hemophilia
By: Maya Kolakowski
What is Hemophilia?
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Hemophilia is a group of hereditary
genetic disorders that impair the body's
ability to control blood clotting or
coagulation, which is used to stop
bleeding when a blood vessel is broken.
HEMOPHILIA
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There are two types of Hemophilia, type
A and type B. Both are caused by
deficiencies in the amount of clotting
factor in the blood (VIII or IX). When the
blood does not have enough of one of
these or is missing one clotting factor, the
bleeding may end very slowly or may not
stop at all.
HOW YOU GET HEMOPHILIA
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Hemophilia is a genetic disease and is passed
on by the X chromosome (the chromosome that
carries the clotting factor).
If a boy gets the X chromosome that carries the
hemophilia gene he will become a hemophiliac.
If a girl get the gene, she will become the carrier
of the gene, not showing symptoms of the
disease. The carrier has a 50% chance of
passing the gene on to her children every time
she gets pregnant.
TREATMENTS

The types of treatment methods available
today are:
Plasma-derived products,
 Recombinant coagulating factors
 Gene therapy.
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HISTORY
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Hemophilia has often been called ”The Royal
Disease”. This is because Queen Victoria,
Queen of England from 1837 to 1901, was a
carrier. Her eighth child, Leopold, had
hemophilia.
Two of Queen Victoria's daughters, Alice and
Beatrice, were also carriers of hemophilia. They
passed the disease on to the Spanish, German
and Russian Royal Families.
MUTATIONS

Mutations in the F8 and F9 genes cause hemophilia.
Changes in the F8 gene are responsible for hemophilia
A, while mutations in the F9 gene cause hemophilia B.
The F8 gene provides instructions for making a protein
called coagulation factor VIII. A related protein,
coagulation factor IX, is produced from the F9 gene.
Coagulation factors are proteins that work together in the
clotting process. After an injury, blood clots protect the
body by sealing off damaged blood vessels and
preventing further blood loss.
KARYOTYPE
There is no karyotype for Hemophilia. You
can't see what's wrong with the
chromosome by just looking at it. There is
an error in one or more base pairs in the
DNA. This is way too small to be seen it's
at the molecular level and it has to be
detected using special tests.
DIAGNOSIS
Doctor will ask about your personal and
family medical histories.
 Physical exam and blood test: How long it
takes for your blood to clot, if your blood
has low levels of any clotting factor,
whether any clotting factors are completely
missing from your blood
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CITATIONS
http://www.nhlbi.nih.gov/health/healthtopics/topics/hemophilia/
 http://www.hemophilia.org/NHFWeb/MainP
gs/MainNHF.aspx?menuid=0&contentid=1
 http://kidshealth.org/parent/medical/heart/h
emophilia.html
 http://www.cdc.gov/ncbddd/hemophilia/
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