Genetics Hemophilia Presentation

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Genetics HemophiliaPresentation
By Will Mcauliffe-Trefz-Genetics
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How does Hemophilia occur?
The two types of hemophilia are caused by
permanent gene changes or mutations. Mutations in
the Factor VIII gene cause hemophilia A. This is
needed for blood clots and people who have
hemophilia have problems with either this gene or
the Factor IX gene. Mutations in the Factor IX
gene cause hemophilia B. Proteins made by these
genes have an important role in the blood
clotting process. Mutations in either gene keep
clots from forming when there is an injury,
causing too much bleeding that can be difficult
to stop along with other side effects. Genetic
testing of the factor VIII gene and the factor IX
gene shows us that the FVIII gene makes a
mutation in up to 98 percent of individuals who
have hemophilia A and the factor IX gene causes
hemophilia B in 99 percent of people.
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HISTORY?

• In 1803 Dr. John Otto realized that hemophilia
  was hereditary and that it affected mostly males.
  He also though that it was passed down by healthy
  females. The though that males who had hemophilia
  could pass the trait onto their unaffected
  daughters was not described until 1813. This is
  when John Hay published an account on hemophilia.
• Hemophilia is much more likely to effect men
  rather than women.

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Can it be passed???
YES, hemophilia can be passed through
generations. Hemophilia is a condition that is
considered a X-linked gene mutation. It is
located on the X chromosome which is the
chromosome present in males and in females. One
messed up copy of the gene in each cell is enough
to cause the condition. Since females have two X
chromosomes the condition is much less likely to
occur in them. Fathers cannot pass X-linked
traits to their sons. A female who is a carrier
has a 50 chance to pass on her X chromosome with
the gene mutation for hemophilia A or B to a boy
who will be affected. The female also has a 50
percent chance to pass on her X chromosome with
the normally functioning gene to a boy who will
not have hemophilia.
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How is it diagnosed/Symtoms
Genetic testing is typically used to identify
women who are victims of the gene mutation, and
to diagnose hemophilia. Diagnosing hemophilia
before birth is also possible using the same
method. It is sometimes used to diagnose
individuals who have mild symptoms of hemophilia
A or B.
Symptoms of hemophilia include extended bleeding
times, renewed bleeding after initial bleeding
has stopped, easy or spontaneous bruising and
even tooth issues.
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How is it treated?
There is currently no cure however treatment
options are dependent on how bad a case The
individual has. Treatment may involve slow
injection of a medicine called desmopressin into
a vein. DDAVP or desmopressin helps hemophilia
victims by release of more clotting factor to
stop the bleeding. This is sometimes a nasal
spray. Victims of more sever hemophilia use
different treatment. They may need to have an
infusion of clotting factor taken from donated
human blood. This could even come from
genetically engineered products called
recombinant clotting factors to stop the
bleeding. If the potential for bleeding is
serious infusions of clotting factor can avoid
bleeding before the bleeding begins. This may
need to be done more then once. When bleeding has
damaged the body physical therapy can be used to
help. Sometimes the bleeding into joints damages
them or destroys them which is what physical
therapy tries to prevent. If this happens the
person may need artificial parts. Researchers
are starting to develop a gene replacement
treatment for Hemophilia A. The results are
giving much hope to patients, and doctors hope a
cure is on the way.
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• http//ghr.nlm.nih.gov/conditionhemophilia
• http//www.genome.gov/20019697
• http//www.webmd.com/a-to-z-guides/hemophilia-trea
  tment-overview