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.