Biology

NAME : J.AKSHAYA
CLASS : XII-A
ACADEMIC YEAR : 2024-2025
DEPARTMENT OF BIOLOGY,
VELAMMAL BODHI CAMPUS,
ANUPPANADI,MADURAI.
 Certificate

This is to certify that I , J.AKSHAYA of class XII

of velammal bodhi campus,has successfully
completed the study of “Hemophilia: The
types,symptoms and treatment”,as prescribed by
the ALL INDIA SENIOR SECONDARY CERTIFICATE
EXAMINATION (AISSCE) for the academic year of
2024-2025.

Principal’s signature

Signature of Signature of
External examiner. Internal Examiner.
 Acknowledgement
First of all, I wholeheartedly thank the almighty
who blessed me with very supportive people
around me.
I would like to express my special thanks of
gratitude to my biology teacher MR.Karuppasamy
and MRS.Uma Maheshwari for their guidance
and support to complete this project on time.
I would like to extend my gratidude to the
principal sir MR.Balamurugan for providing timely
support and required facilities.
I thank our chairman and vice chairman of
velammal Bodhi campus,Anuppanadi,Madurai for
providing us ample facilities to learn many things
while doing this investigatory project and to
complete it on time.
Finally, I would like to thank my parents who
extended their helping hands to finish anf finalise
this project.
INDEX
• CERTIFICATE
• ACKNOWLEDGEMENT
• AIM/OBJECTIVE
• WHAT IS HAEMOPHILIA
• CAUSES
• SIGNS AND SYMPTOMS
• DIAGNOSIS
• TREATMENT
• HOW HAEMOPHILIA IS
INHERITED
• HAEMOPHILIA-A
• HAEMOPHILIA-B
• BIBLIOGRAPHY
WHAT IS HAEMOPHILIA
Haemophilia is a genetic disorder that
impairs the ability of the body to clot the blood,
which is required to stop bleeding. Haemophilia
is caused due to genetic mutation. It involves
the mutation of genes that are essential for the
clotting of blood. The clotting of blood is a
complex phenomenon involving 13 different
proteins. They are termed as factors from I to
XIII. Haemophilia A is caused due to deficiency
of factor VIII and Haemophilia B is caused due
to deficiency of factor IX. Haemophilia C is
caused due to deficiency in factor XI.
 Causes
Haemophilia is caused by a mutation or
change , in one of the genes, that provides
instructions for making the clotting factor
proteins needed to form a blood clot. This
change or mutation can prevent the clotting
protein from working properly or to be
missing altogether.These genes are located on
the X chromosome. Males have one X and Y
chromosome (XY) and females have two X
chromosomes(XX). Males inherit the X
chromosome from their mothers and the Y
chromosome from their mothers and the Y
chromosome from their fathers. Females inherit
one X chromosome from each parent.
 The X chromosome contains many
genes that are not present on the Y
chromosome. This means that males only
have a disease like haemophilia if they
inherit an affected X chromosome that has a
mutation in either the factor VIII or factor
XI gene. Females can also have haemophilia,
but this is much rarer. In such cases both X
chromosomes are affected or one is affected
and other is missing or inactive. In these
females, bleeding symptoms may be similar
to males with haemophilia.
A female with one affected X chromosome
is a carrier of haemophilia. Sometimes a
female who is carrier can have symptoms of
haemophilia. In addition, she can pass the
affected X chromosome with the clotting
factor gene mutation on to her children.
 Even though haemophilia runs in
families, some have family no prior history
of family members with haemophilia.
Sometimes there are carrier females in the
family, but no affected boys, just by chance.
However , about one third of the time, the
baby with haemophilia is the first one in
the family to be affected with a mutation
in the gene for the clotting factor.

Hemophilia can result in:

• Bleeding within joints that can
lead to chronic joint disease and
pain.
• Bleeding in the head and
sometimes in the brain which
can cause long term problems,
such as seizures and paralysis.
 • Death can occur if the bleeding
cannot be stopped or if it occurs
in a vital organ such as the
brain.

Tips for Healthy Living :

1. Get an annual comprehensive checkup

at a haemophilia treatment center.
2. Get vaccinated-Hepatitis A and B are
preventable.
3. Treat bleeds early and adequately.
4. Exercise and maintain a healthy weight
to protect your joints.
5. Get tested regularly for blood-borne
infections.
 Types Of Haemophilia
There are several different types of haemophilia.
The following two are the most common:
• Haemophilia A (Classic Haemophilia):-
This type is caused by a lack or decrease of
clotting factor VIII.
• Haemophilia B (Christmas Disease):-
This type is caused by a lack or decrease of
clotting factor IX.
 Signs and Symptoms
Common signs of hemophilia include:
• Bleeding into the joints. This can
cause swelling and pain or tightness
in the joints; it often affects the knees,
elbows, and ankles.
• Bleeding into the skin (which is
bruising) or muscle and soft tissue
causing a build-up of blood in the area
(called a hematoma)
• Bleeding of the mouth and gums, and
bleeding that is hard to stop after
losing a tooth.
• Bleeding after circumcision (surgery
performed on male babies to remove the
hood of skin, called the foreskin,
covering the head of the penis).
• Bleeding after having shots, such as
vaccinations.
 • Bleeding in the head of an infant
after a difficult delivery.
• Blood in the urine or stool.
• Frequent and hard-to-stop nosebleeds.

WHO IS AFFECTED
Haemophilia occurs in about 1 of every
5,000 male births. Based on recent study
that used data collected on patients
receiving care in federally funded
haemophilia treatment centers during the
period 2012-2018, about 20,000 as many as
33,000 males in the United States are
living with the disorder. Haemophilia A is
about four times as common as hemophilia
B, and about half of those affected have the
severe form. Haemophilia affects people from
all racial and ethnic groups.
 Diagnosis
Many people who have or have had
family members with haemophilia will ask
that their baby boys get tested soon after
birth. About one-third of babies who are
diagnosed with haemophilia have a new
mutation not present in other family
members. In these cases, a doctor might
check for haemophilia if a newborn is
showing certain signs of haemophilia. To
make a diagnosis, doctors would perform
certain blood tests to show if the blood is
clotting properly. If it does not, then they
would do clotting factor tests, also called
factor assays, to diagnose the cause of the
bleeding disorder. These blood tests would
show the type of haemophilia and the
severity.

Treatment
The best way to treat haemophilia is to
replace the missing blood clotting factor
so that the blood can clot properly. This
is done by infusing (administering
through a vein) commercially prepared
factor concentrates. People with
haemophilia can learn how to perform
these infusions themselves so that they
can stop bleeding episodes and, by
performing the infusions on a regular
basis (called prophylaxis), can even prevent
most bleeding episodes. Good quality
medical care from doctors and nurses
who know a lot about the disorder can
help prevent some serious problems. Often
the best choice for care is to visit a
comprehensive Haemophilia Treatment
Center (HTC). An HTC not only provides
care to address all issues related to the
disorder, but also provides health
education that helps people with
haemophilia stay healthy. About 15-20
percent of people with haemophilia develop
an antibody (called an inhibitor) that
stops the clotting factors from being able
to clot the blood and stop bleeding.
Treatment of bleeding episodes becomes
extremely difficult, and the cost of care
for a person with an inhibitor can
skyrocket because more clotting factor or
a different type of clotting factor is
needed. People with inhibitors often
experience more joint disease and other
problems from bleeding that result in a
reduced quality of life. Several different
types of clotting factors are associated
with different varieties of haemophilia.
The main treatment for severe
haemophilia involves receiving replacement
of the specific clotting factor that you
need through a tube placed in a vein.

Other therapies may include:

Desmopressin:-
In some forms of mild haemophilia, this
hormone can stimulate your body to
release more clotting factor. It can be
injected slowly into a vein or provided as
a nasal spray.
Clot-preserving medications:-
These medications help prevent clots from
breaking down.
Fibrin sealants:-
These medications can be applied directly
to wound sites to promote clotting and
healing. Fibrin sealants are especially
useful in dental therapy.
Physical therapy:-
It can ease signs and symptoms if
internal bleeding has damaged your
joints. If internal bleeding has caused
severe damage, you may need surgery.
First aid for minor cuts:-
 Using pressure and a bandage
will generally take care of the bleeding.

How Haemophilia is Inherited :-

The following examples show how the
haemophilia gene can be inherited. It is
important to note that in one-third of people
with haemophilia, there is no family history of
the disorder.
• In this example, the mother is a carrier of
the haemophilia gene, and the father does
not have haemophilia.
1. There is a 50% chance that each
son will have haemophilia.
2. There is a 50% chance that each
daughter will be a carrier of the
haemophilia gene.
• In this example, the father has haemophilia,
and the mother does not carry the
haemophilia gene.
1. All daughters will carry the
hemophilia gene.
2. No sons will have haemophilia.
• In this example, the father does not have
haemophilia, and the mother does not carry
the haemophilia gene.
None of the children (daughters or
sons) Will have haemophilia.
HAEMOPHILIA-A
Haemophilia A is an inherited
bleeding disorder in which the blood does
not clot normally. People with haemophilia A
will bleed more than normal after an
injury, surgery, or dental procedure. This
disorder can be severe, moderate, or mild. In
severe cases, heavy bleeding occurs after
minor injury or even when there is no
injury (spontaneous bleeding). Bleeding into
the joints, muscles, brain, or organs can cause
pain and other serious complications. In
milder forms, there is no spontaneous
bleeding, and the disorder might only be
diagnosed after a surgery or serious injury.
Haemophilia A is caused by having low
levels of a protein called factor VIII. Factor
VIII is needed to form blood clots. The
disorder is inherited in an X-linked
recessive manner and is caused by changes
(mutations) in the F8 gene. The diagnosis of
haemophilia A is made through clinical
symptoms and specific laboratory tests to
measure the amount of clotting factors in
the blood. The main treatment is replacement
therapy, during which clotting factor VIII is
dripped or injected slowly into a vein.
Haemophilia A mainly affects males. With
treatment, most people with this disorder do
well. Some people with severe haemophilia A
may have a shortened lifespan due to the
presence of other health conditions and rare
complications of the disorder.

Diagnosis
The diagnosis of haemophilia A is
made through the clinical symptoms and
confirmed by laboratory testing. Blood tests
are done to measure the time it takes the
blood to clot and the amount of clotting
factors found in the blood. Genetic testing
can also help determine the exact change in
the F8 gene and can be helpful for
identifying other family members at risk
for haemophilia A. People with inherited
haemophilia A require life-long care,
preferably through a specialized haemophilia
treatment center. These centers are located
around the United States and can be found
through the Centers for Disease Control and
Prevention. The National Hemophilia
Foundation has links to management and
treatment guidelines.
There is no cure for haemophilia
A, but current treatments can prevent many
of the symptoms of haemophilia A.
Treatment may include medications and
replacing the missing clotting factor
(replacement therapy). This type of
replacement therapy is done by slowly
injecting or dripping concentrated factor VIII
into a vein (intravenous infusion). The type
and frequency of treatment often depends
on the severity of the disorder in each
person.
People with mild or moderate
haemophilia A may be treated with
replacement therapy as needed (for example,
when a bleeding episode occurs). This is
called 'on- demand' therapy. Some people with
mild haemophilia A may be treated with
desmopressin (DDAVP). Desmopressin raises
the levels of factor VIII in the blood and
may be given directly into a vein or
through a nasal spray. Drugs known as
antifibrinolytics, which slow the breakdown
of clotting factors in the blood, can also be
used to treat a mild form of the disorder.
Some people with severe haemophilia A may
receive regular factor VIII replacement therapy
to prevent bleeding episodes and other
complications such as joint damage. This is
referred to as prophylactic or preventative
therapy. These factor VIII infusions may be
done as often as necessary depending on the
severity. The immune system of some people
with the severe form of haemophilia A may
start to make antibodies (inhibitors) that
prevent the replacement factor VIII from
working. Treatment for these people includes
larger doses of replacement factor VIII
and/or medications that may help block the
inhibitors.
A PTT (partial Thromboplastin
Time) is used to :
• Check the function of specific
coagulation factors. If any of these factors
are missing or defective, it can mean you
have a bleeding disorder. Bleeding
 disorders are a group of rare conditions
in which blood doesn't clot normally. The
most well-known bleeding disorder is
haemophilia.
• Find out if there is another reason for
excessive bleeding or other clotting problems.
These include certain autoimmune diseases
that cause the immune system to attack
coagulation factors.
• Monitor people taking heparin, a type of
medicine that prevents clotting. In some
bleeding disorders, the blood clots too much,
rather than too little. This can cause heart
attacks, strokes, and other life-threatening
conditions. But taking too much heparin
can cause excessive and dangerous bleeding.
HAEMOPHILIA-B
Haemophilia B, also called
factor IX (FIX) deficiency or Christmas
disease, is a genetic disorder caused by
missing or defective factor IX, a clotting
protein. Although it is passed down from
parents to children, about 1/3 of cases are
caused by a spontaneous mutation, a change
in a gene.
According to the US Centers for
Disease Control and Prevention, hemophilia
occurs in approximately 1 in 5,000 live
births. There are about 20,000 people with
hemophilia in the US. All races and ethnic
groups are affected.

Hemophilia B is four times less

common than haemophilia A.
 People with haemophilia B bleed
longer than other people. Bleeds can occur
internally, into joints and muscles, or
externally, from minor cuts, dental
procedures or trauma. How frequently a
person bleeds and how serious the bleeds are
depends on how much FIX is in the plasma,
the straw-colored fluid portion of blood.
Normal plasma levels of FIX range from
50% to 150%.Levels below 50%, or half of what
is needed to form a clot, determine a person's
symptoms.
Mild haemophilia B:- 6% up to 49% of
FIX in the blood. People with mild
haemophilia B typically experience bleeding
only after serious injury, trauma or
surgery. In many cases, mild haemophilia is
not diagnosed until an injury, surgery or
tooth extraction results in prolonged
bleeding. The first episode may not occur
until adulthood. Women with mild
haemophilia often experience menorrhagia,
heavy menstrual periods, and can hemorrhage
after childbirth.
Moderate hemophilia B:- 1% up to
5% of FIX in the blood. People with moderate
haemophilia B tend to have bleeding episodes
after injuries. Bleeds that occur without
obvious cause are called spontaneous
bleeding episodes.
Severe hemophilia B:- <1% of FIX
in the blood. People with severe haemophilia B
experience bleeding following an injury and
may have frequent spontaneous bleeding
episodes, often into their joints and muscles.

DIAGNOSIS :-
 The best place for patients with
haemophilia to be diagnosed and treated is
at one of the federally-funded hemophilia
treatment centers (HTCs) that are spread
throughout the country. HTCs provide
comprehensive care from skilled
haematologists and other professional staff,
including nurses, physical therapists, social
workers and sometimes dentists, dieticians
and other healthcare providers.
A medical health history is
important to help determine if other relatives
have been diagnosed with a bleeding
disorder or have experienced symptoms. Tests
that evaluate clotting time and a patient's
ability to form a clot may be ordered. A
clotting factor test, called an assay, will
determine the type of haemophilia and its
severity.
 TREATMENT :-
The main medication to treat
hemophilia B is concentrated FIX product,
called clotting factor or simply factor.
Recombinant factor products, which are
developed in a lab through the use of DNA
technology include the use of human-derived
pools of donor-sourced plasma. And while
plasma-derived FIX products are still
available, approximately 75% of the
haemophilia community takes a recombinant
FIX product.
These factor therapies are infused
intravenously through a vein in the arm or a
part in the chest. The Medical and Scientific
Advisory Council (MASAC) of the National
Hemophilia Foundation encourages the use
of recombinant clotting factor products
because they are safer. Your doctor or your
HTC will help you decide which is right for
you.
Patients with severe haemophilia may
be on a routine treatment regimen, called
prophylaxis, to maintain enough clotting
factor in their blood stream to prevent bleeds.
MASAC recommends prophylaxis as optimal
therapy for children with severe hemophilia B.
Aminocaproic acid is an
antifibrinolytic, preventing the breakdown of
blood clots. It is often recommended before
dental procedures, and to treat nose and
mouth bleeds. It is taken orally, as a tablet
or liquid. MASAC recommends that a dose
of clotting factor be taken first to form a
clot, then aminocaproic acid, to preserve the
clot and keep it from being broken down
prematurely.
Bibliography
➢ NCERT book class 12 (BIOLOGY)
➢ www.google,com
➢ www.wikipedia.com
➢ www.docfoc.com
➢ www.academic.edu
➢ www.bing.com