Upload
harshil-patel
View
798
Download
5
Tags:
Embed Size (px)
Citation preview
HEMOPHILIAHEMOPHILIA
Group:1
WHAT DO WE KNOW ABOUT WHAT DO WE KNOW ABOUT THE GENETIC DISORDER IN THE GENETIC DISORDER IN
GENERAL?GENERAL?A
n illness caused by abnormalities in genes or in chromosomes.
I
t could sometimes be caused by environmental factors.
B
y some types of recessive gene disorders confer an advantage in
the heterozygous.
P
revents blood from clotting properly.
WHY DID WE CHOOSE THIS WHY DID WE CHOOSE THIS PARTICULAR DISORDER?PARTICULAR DISORDER?
H
emophilia is a rare inherited disorder, in which the blood doesn’t clot
normally.
H
emophilia usually occurs in males but there are rare exceptions.
P
eople may bleed for a long period of time.
P
eople wake up not knowing what they have in their arm, leg, neck,etc.
WHAT DO WE WANT TO FIND WHAT DO WE WANT TO FIND OUT ABOUT THE DISEASE?OUT ABOUT THE DISEASE?
W
hat are the symptoms in getting this disease?
H
ow did it all start?
W
hy does it happen?
C
an it be cured or does it stay for life?
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
Victoria’s family tree
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.
Why it happens
HOW DOES A CHILD GET HOW DOES A CHILD GET THE DISORDER?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 WHAT IS THE SURVIVAL RATE? IS IT TREATABLE?RATE? IS 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.
3
2 per week.
4
per day.
WHAT IS THE WHAT IS THE TREATMENT FOR TREATMENT FOR
HEMOPHILIA?HEMOPHILIA?
R
ecombinant factor VIII
M
onoclonal factor VIII
D
esmopressin
A
minocaprocic acid
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.
WHAT BIOTECHNOLOGICAL WHAT BIOTECHNOLOGICAL APPLICATIONS ARE CURRENTLY APPLICATIONS ARE CURRENTLY
BEING USED IN THE FIGHT AGAINST BEING USED IN THE FIGHT AGAINST THIS DISEASE?THIS DISEASE?
T
he tools are being
open to new research
for discovering how
healthy bodies work
and what goes wrong
when problems arise.
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
TYPE OF DISORDERT
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 chromosome 5.
KARYOTYPE
T
he gene for hemophilia is 186,000 base pairs,
and has 26 exons separated by 25 introns.
H
appening in Chromosome five.
SYMPTOMSS
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
requent nosebleeds.
B
lood in the urine (hematuria).
B
leeding after dental work
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. Recipients may have occasional allergic reactions.
ALSO CALLED:H
emophilia A:
Classic hemophilia
Factor VIII deficiency
H
emophilia B :
Christmas disease
Factor IX deficiency
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.
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.
p
erson 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.
PROBABILITY OF AFFECTED CHILDREN
If we both are carriers -75% chance that another child will be affected by the same disorder.
I
f we both are carriers -75% chance that
another child will be affected by the same
disorder.