Hemophilia
By:Veronica Jacobo,
Erica Maldonado,
Joseline Lopez
What do we know about the genetic
disorder in general?
An illness caused by abnormalities in genes or in
chromosomes.
It could sometimes be caused by environmental
factors.
By some types of recessive gene disorders confer an
advantage in the heterozygous.
Prevents blood from clotting properly.
In which context did here about
genetic disorder?
We heard it in Biology class.
The website
http://sites.google.com/site/bclhsgenetics/
Why did we choose this particular
disorder?
Hemophilia is a rare inherited disorder, in which the
blood doesn’t clot normally.
Hemophilia usually occurs in males but there are
rare exceptions.
People may bleed for a long period of time.
People wake up not knowing what they have in their
arm, leg, neck,etc.
What do we want to find out about
the disease?
What are the symptoms in getting this disease?
How did it all start?
Why does it happen?
Can it be cured or does it stay for life?
How did it all start?
• There is no certainty of how hemophilia
originated, in the British royal lineage. The
traditional view is that there was a mutation in
either Victoria's genes or in the sperm of her
father, Edward Augustus, Duke of Kent.
Victoria
Victoria’s family tree
Why did this happen?
It's caused by a
defect in one of the
genes that
determine how the
body makes blood
clotting factor VIII or
IX. These genes are
located on the X
chromosomes.
Why it happens
Do we know anyone, friends, or
family who is affected by this
disorder?
Veronica’s side-No
Erica’s side-No
Joseline side-No
How
does
a
child
get
the
disorder?
A man and a women
both have 23 pairs of
chromosomes. The
women have two X
chromosomes; men
have one X and one
Y. Hemophilia is a X
linked genetic
disorder. Meaning it is
passed on from
mother to son on the
X chromosome. But
still the child has a
50% chance of having
hemophilia.
What is the survival rate? Is it
treatable?
Hemophilia isn’t
cured(except by a liver
transplant) although it
can be managed.
1,681 deaths per year.
140 per month.
32 per week.
4 per day.
What is the treatment for
hemophilia?
Recombinant factor
VIII
Monoclonal factor VIII
Desmopressin
Aminocaprocic acid
Besides the symptoms, what
can be done to diagnose the
disorder.
Bleeding.
Bruising easily.
clotting difficulty.
They can use a new
persons blood and
place the blood into
the person who has
hemophilia and see
how long it takes to
clot.
If I was to do a pedigree analysis for three
generations of the older ancestors of the
parents of the child with genetic disorder how
would it look like?
Figure 9.8B page 161
What biotechnological applications are
currently being used in the fight against
this disease?
The tools are being
open to new research
for discovering how
healthy bodies work
and what goes wrong
when problems arise.
Disorder specialist
Hemophilia is an inherited disorder in which
there is inability to form an effective clot and
hence causes prolonged bleeding in a patient.
It is seen exclusively in males. A person with
hemophilia does not bleed faster, only longer.
Hemophilia affects approximately 1 in 5,000
live male births.
There are two types of hemophilia - Hemophilia
A and Hemophilia B. Hemophilia A results from
deficiency or abnormality of factor VIII.
Hemophilia B results from deficiency or
abnormality of factor IX.
What is the type of disorder -gene
or chromosomal?
• The type of disorder is a
Chromosome disorder.
• Both are inherited as
sex-linked recessive
disorder as the genes
responsible for factor
VIII & IX are located on
the X chromosome 5.
What the karyotype
disorder looks like?
of
this
• The gene for hemophilia is 186,000 base pairs, and
has 26 exons separated by 25 introns.
• Happening in Chromosome five.
What are the signs and symptoms of th
disorder
including a detailed
description
of
how
it
affects
the human body?
• Some symptoms of
Hemophilia are:
• Bleeding into a joint or muscle
that causes pain and swelling.
• Abnormal bleeding after an
injury or surgery.
• Easy bruising.
• Frequent nosebleeds.
• Blood in the urine (hematuria).
• Bleeding after dental work
What different tests could have been
provided to the parent to have found
out about this disorder before its birth?
• Human factor VIII concentrates - They are plasma -derived Factor
VIII concentrates made from pooled plasma from thousands of
donors.
• Recombinant Factor VIII concentrates - They are made by
recombinant technique and also contain albumin.
• Porcine Factor VIII concentrates - They are used in patients with
inhibitors of Human Factor VIII. They do not transmit Hepatitis or
HIV. Recipients may have occasional allergic reactions.
Whatother names or abbreviations
are used for the disorder?
• Hemophilia A:
•
Classic hemophilia
•
Factor VIII deficiency
• Hemophilia B :
•
Christmas disease
•
Factor IX deficiency
What kind of lifestyle your child will
have with this disorder
(hemophilia)?
My child would have pain when walking. He/she would have to
take medicine for the pain especially before or after
doing
simple sports. He/she would have to be careful not
to get injured. He/she will not be able to do many things like
other people because there are some things that can hurt
him/her and make him/her bleed. He/she will have to learn how
to inject him/her self the missing clotting factor. He/she would
have to go to a hemophilia treatment center. My child can get
disabling arthritis at any time and live with it for the rest of
his/her life.
How long will my child live?
My child will live almost normal with effective treatment, but
if repeated bleeding incidents happen, it will cause my child
to have disabling arthritis in the joints. If my child gets
disabling arthritis he/she will have pain and reduced motion
in the joints because frequent bleeding incidents cause the
synovium (a thin lining inside the joint capsule) to absorb
the blood lost from the vessels and the synovium will stay
swollen. Eventually the cartilage will be eaten away by the
enzymes from the swollen synovium, which causes the
bones to grind against each other. The bones grinding
against each other causes the pain and reduced movement
to the joints.
f your child with the disorder will be
able to have children of his/her own
and
if
his/her
children
will
be
affected?
My child with the
disorder is able to
have children
If only my child is the
carrier- 50% chance
that his/her children
will be affected.
If both of them are
carriers- 75% chance
that his/her children
will be affected.
If you were to have more children, what is
the probability that another child will be
affected by the same disorder?
If we both are carriers -75% chance that
another child will be affected by the same
disorder.
If we both are carriers -75% chance that another
child will be affected by the same disorder.
Resources
http://www.ygyh.org/hemo/whatisit.htm
http://www.nlm.nih.gov/medlineplus/hemophilia.htm
http://www.dmoz.org/Health/Conditions_and_Diseases/Genetic_Disorders/
http://www.wrongdiagnosis.com/m/marfan_syndrome/treatments.htm
THANK YOU(: