Hemophilia is a genetic bleeding disorder that impairs the body's ability to form blood clots. It is caused by defects in the genes responsible for blood clotting factors VIII or IX, and is inherited through the X chromosome. The main symptoms are prolonged bleeding from minor injuries, easy bruising, and bleeding into joints or muscles. Treatment involves replacing the missing clotting factor through infusions of factor concentrates. With effective treatment, people with hemophilia can live normal lifespans, though they remain at risk for joint damage from repeated bleeding. Carriers can have children with hemophilia, with risks varying based on the genetic status of both parents.

1. HEMOPHILIAHEMOPHILIA
Group:1

2. WHAT DO WE KNOW ABOUT THEWHAT DO WE KNOW ABOUT THE
GENETIC DISORDER IN GENERAL?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.

3. WHY DID WE CHOOSE THISWHY DID WE CHOOSE THIS
PARTICULAR DISORDER?PARTICULAR DISORDER?
Hemop
hilia is a rare inherited disorder, in which the blood doesn’t clot
normally.
Hemop
hilia usually occurs in males but there are rare exceptions.
People
may bleed for a long period of time.
People

4. WHAT DO WE WANT TO FINDWHAT DO WE WANT TO FIND
OUT ABOUT THE DISEASE?OUT ABOUT THE DISEASE?
What
are the symptoms in getting this disease?
How
did it all start?
Why
does it happen?
Can it

5. HOW DID IT ALL START?
T
here 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

6. Victoria’s family tree

7. WHY DID THIS HAPPEN?
I
t'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.

8. Why it happens

9. HOW DOES A CHILD GET THEHOW DOES A CHILD GET THE
DISORDER?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.

10. WHAT IS THE SURVIVAL RATE? ISWHAT IS THE SURVIVAL RATE? IS
IT TREATABLE?IT TREATABLE?
H
emophilia isn’t cured(except
by a liver transplant)
although it can be managed.
1
,681 deaths per year.
1
40 per month.

11. WHAT IS THEWHAT IS THE TREATMENTTREATMENT
FOR HEMOPHILIA?FOR HEMOPHILIA?
R
ecombinant factor VIII
M
onoclonal factor VIII
D
esmopressin

12. BESIDES THE SYMPTOMS,
.
B
leeding.
B
ruising easily.
c
lotting difficulty.
T
hey can use a new persons blood and
place the blood into the person who
has hemophilia and see how long it
takes to clot.

13. WHAT BIOTECHNOLOGICALWHAT BIOTECHNOLOGICAL
APPLICATIONS ARE CURRENTLY BEINGAPPLICATIONS ARE CURRENTLY BEING
USED IN THE FIGHT AGAINST THISUSED IN THE FIGHT AGAINST THIS
DISEASE?DISEASE?
T
he tools are being open
to new research for
discovering how healthy
bodies work and what
goes wrong when
problems arise.

14. 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.
Disorder specialist

15. TYPE OF DISORDER
T
he type of disorder is a
Chromosome disorder.
B
oth are inherited as sex-linked
recessive disorder as the genes
responsible for factor VIII &
IX are located on the X

16. KARYOTYPE
The
gene for hemophilia is 186,000 base pairs, and has 26 exons
separated by 25 introns.
Hap
pening in Chromosome five.

17. SYMPTOMS
S
ome symptoms of Hemophilia are:
B
leeding into a joint or muscle that causes
pain and swelling.
A
bnormal bleeding after an injury or
surgery.
E
asy bruising.
F

18. DISORDER TEST
H
uman factor VIII concentrates - They are plasma -derived Factor VIII
concentrates made from pooled plasma from thousands of donors.
R
ecombinant Factor VIII concentrates - They are made by recombinant
technique and also contain albumin.
P
orcine Factor VIII concentrates - They are used in patients with
inhibitors of Human Factor VIII. They do not transmit Hepatitis or HIV.

19. ALSO CALLED:
Hemophili
a A:

Classic hemophilia

Factor VIII deficiency
Hemophili
a B :

Christmas disease


20. LIFESTYLE OF PERSON
person
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.

21. HOW LONG WILL PERSON LIVE?HOW LONG WILL PERSON LIVE?
person
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.

22. p
erson with the disorder is able to have
children
If only my child is the carrier- 50%
chance thathis/her children will
be affected.
If both of them are carriers- 75%
chance that his/her children will be
affected.

23. PROBABILITY OF AFFECTEDCHILDREN
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.