Transcript Genetics Hemophilia Presentation

Genetics Hemophilia
Presentation
By Will Mcauliffe-Trefz-Genetics
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.
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.
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.
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.
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.
• http://ghr.nlm.nih.gov/condition=hemophilia
• http://www.genome.gov/20019697
• http://www.webmd.com/a-to-zguides/hemophilia-treatment-overview