Aklan State University

School of Arts and Sciences

Banga, Aklan

In Partial Fulfillment Of the Requirements

for the Related Learning Experience:

Readings about Hemophilia

Submitted by:
Mary Elijah Jane P. Popes
BSN 2-2

Submitted to:
Maricel F. Nagamos, RN
Clinical Instructor
 Hemophilia
Hemophilia is usually an inherited
bleeding disorder in which the blood
does not clot properly. This can lead
to spontaneous bleeding as well as
bleeding following injuries or
surgery. Blood contains many
proteins called clotting factors that
can help to stop bleeding. People
with hemophilia have low levels of
either factor VIII (8) or factor IX
(9). The severity of hemophilia that a
person has is determined by the
amount of factor in the blood. The
lower the amount of the factor, the
more likely it is that bleeding will
occur which can lead to serious
health problems.

Hemophilia is a rare disorder in which your blood doesn't clot normally because
it lacks sufficient blood-clotting proteins (clotting factors). If you have
hemophilia, you may bleed for a longer time after an injury than you would if
your blood clotted normally. Small cuts usually aren't much of a problem. If you
have a severe deficiency of the clotting factor protein, the greater health
concern is deep bleeding inside your body, especially in your knees, ankles and
elbows. That internal bleeding can damage your organs and tissues, and may be
life-threatening.

Hemophilia is a genetic disorder. Treatment includes regular replacement of the

specific clotting factor that is reduced.

Types

There are several different types of hemophilia. The following two are the most
common:

• Hemophilia A (Classic Hemophilia) - This type is caused by a lack or

decrease of clotting factor VIII.
• Hemophilia B (Christmas Disease) - This type is caused by a lack or
decrease of clotting factor IX.

Who is Affected

Hemophilia 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
hemophilia 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.
Hemophilia A is about four times as common as hemophilia B, and about half of
those affected have the severe form. Hemophilia affects people from all racial
and ethnic groups.

Inhibitors

About 15-20 percent of people with hemophilia 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.

Symptoms

Signs and symptoms of hemophilia vary, depending on your level of clotting

factors. If your clotting-factor level is mildly reduced, you may bleed only after
surgery or trauma. If your deficiency is severe, you may experience spontaneous
bleeding.

Signs and symptoms of spontaneous bleeding include:

 Unexplained and excessive bleeding from cuts or injuries, or after surgery

or dental work

 Many large or deep bruises

 Unusual bleeding after vaccinations

 Pain, swelling or tightness in your joints

 Blood in your urine or stool

  Nosebleeds without a known cause

 In infants, unexplained irritability

 Bleeding into the brain

A simple bump on the head can cause bleeding into the brain for some people
who have severe hemophilia. This rarely happens, but it's one of the most
serious complications that can occur. Signs and symptoms include:

 Painful, prolonged headache

 Repeated vomiting

 Sleepiness or lethargy

 Double vision

 Sudden weakness or clumsiness

 Convulsions or seizures

 When to see a doctor

 Seek emergency care if you or your child experiences:

 Signs or symptoms of bleeding into the brain

 An injury in which the bleeding won't stop

 Swollen joints that are hot to the

touch and painful to bend

If you have a family history of

hemophilia, you may want to undergo
genetic testing to see if you're a carrier
of the disease before you start a family.

Causes

When you bleed, your body normally

pools blood cells together to form a clot
to stop the bleeding. The clotting
process is encouraged by certain blood particles. Hemophilia occurs when you
have a deficiency in one of these clotting factors.

There are several types of hemophilia, and most forms are inherited. However,
about 30% of people with hemophilia have no family history of the disorder. In
these people, an unexpected change occurs in one of the genes associated with
hemophilia.

Acquired hemophilia is a rare variety of the condition that occurs when a

person's immune system attacks clotting factors in the blood. It can be
associated with:

 Pregnancy

 Autoimmune conditions

 Cancer

 Multiple sclerosis

 Hemophilia inheritance

In the most common types of hemophilia, the faulty gene is located on the X
chromosome. Everyone has two sex chromosomes, one from each parent. A
female inherits an X chromosome from her mother and an X chromosome from
her father. A male inherits an X chromosome from his mother and a Y
chromosome from his father. This means that hemophilia almost always occurs
in boys and is passed from mother to son through one of the mother's genes.
Most women with the defective gene are simply carriers and experience no signs
or symptoms of hemophilia. But some carriers can experience bleeding
symptoms if their clotting factors are moderately decreased.

Risk factors

The biggest risk factor for hemophilia is to have family members who also have
the disorder.

Complications

Complications of hemophilia may include:

  Deep internal bleeding. Bleeding that occurs in deep muscle can cause
your limbs to swell. The swelling may press on nerves and lead to
numbness or pain.

 Damage to joints. Internal bleeding may also put pressure on your joints,
causing severe pain. Left untreated, frequent internal bleeding may cause
arthritis or destruction of the joint.

 Infection. People with hemophilia are likelier to have blood transfusions,

increasing their risk of receiving contaminated blood products. Blood
products became safer after the mid-1980s due to screening of donated
blood for hepatitis and HIV.

 Adverse reaction to clotting factor treatment. In some people with severe

hemophilia, the immune system has a negative reaction to the clotting
factors used to treat bleeding. When this happens, the immune system
develops proteins (known as inhibitors) that inactivate the clotting
factors, making treatment less effective.

Diagnosis

For people with a family history of hemophilia, it's possible to determine during
pregnancy if the fetus is affected by hemophilia. However, the testing poses
some risks to the fetus. Discuss the benefits and risks of testing with your
doctor. In children and adults, a blood test can reveal a clotting-factor
deficiency. Depending on the severity of the deficiency, hemophilia symptoms
can first arise at various ages. Severe cases of hemophilia usually are diagnosed
within the first year of life. Mild forms may not be apparent until adulthood.
Some people first learn that they have hemophilia after they bleed excessively
during a surgical procedure.

Treatment

Several different types of clotting factors are associated with different varieties
of hemophilia. The main treatment for severe hemophilia involves receiving
replacement of the specific clotting factor that you need through a tube placed in
a vein. This replacement therapy can be given to combat a bleeding episode
that's in progress. It can also be administered on a regular schedule at home to
help prevent bleeding episodes. Some people receive continuous replacement
therapy. Replacement clotting factor can be made from donated blood. Similar
products, called recombinant clotting factors, are manufactured in a laboratory
and aren't made from human blood.

Other therapies may include:

 Desmopressin. In some forms of mild hemophilia, 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. For small areas of bleeding beneath the skin, use an
ice pack. Ice pops can be used to slow down minor bleeding in the mouth.

 Vaccinations. Although blood products are screened, it's still possible for
people who rely on them to contract diseases. If you have hemophilia,
consider receiving immunization against hepatitis A and B.

Lifestyle and home remedies

To avoid excessive bleeding and protect your joints:

 Exercise regularly. Activities such as swimming, bicycle riding and

walking can build up muscles while protecting joints. Contact sports —
such as football, hockey or wrestling — are not safe for people with
hemophilia.

 Avoid certain pain medications. Drugs that can aggravate bleeding include
aspirin and ibuprofen (Advil, Motrin IB, others). Instead, use
acetaminophen (Tylenol, others), which is a safer alternative for mild pain
relief.
  Avoid blood-thinning medications. Medications that prevent blood from
clotting include heparin, warfarin (Coumadin, Jantoven), clopidogrel
(Plavix), prasugrel (Effient), ticagrelor (Brilinta), rivaroxaban (Xarelto),
apixaban (Eliquis), edoxaban (Savaysa) and dabigatran (Pradaxa).

 Practice good dental hygiene. The goal is to prevent tooth extraction,

which can lead to excessive bleeding.

 Protect your child from injuries that could cause bleeding. Kneepads,
elbow pads, helmets and safety belts all may help prevent injuries from
falls and other accidents. Keep your home free of furniture with sharp
corners.

Coping and support

To help you and your child cope with hemophilia:

 Get a medical alert bracelet. This bracelet lets medical personnel know
that you or your child has hemophilia, and the type of clotting factor
that's best in case of an emergency.

 Talk with a counselor. You may be concerned about striking the right
balance between keeping your child safe and encouraging as much normal
activity as possible. A social worker or therapist with knowledge of
hemophilia can help you cope with your concerns and identify the
minimum limitations necessary for your child.

 Let people know. Be sure to tell anyone who will be taking care of your
child — babysitters, workers at your child care center, relatives, friends
and teachers — about your child's condition. If your child plays
noncontact sports, be sure to tell coaches, too.

References:

Retrieved from https://www.mayoclinic.org/diseases-conditions/

hemophilia/diagnosis-treatment/drc-20373333

Retrieved from https://www.cdc.gov/ncbddd/hemophilia/facts.html

Retrieved from https://kidshealth.org/en/parents/hemophilia.html

 REACTION
Hemophilia is a rare disease that prevents blood from clotting as it should.
It happens because the body doesn't make enough of a protein called a clotting
factor. Clotting helps stop bleeding after a cut or injury. If clotting doesn't
happen, someone can bleed easily or longer than normal.

Hemophilia is a genetic disorder. It happens when there's a gene change

(mutation), which usually is inherited (passed from parent to child).Hemophilia
mostly affects boys. But girls and women can be hemophilia carriers with mild
hemophilia A. They may have mild bleeding symptoms and can pass the gene to
their children. If hemophilia runs in the family, doctors can do prenatal (before
birth) testing with amniocentesis or chorionic villus sampling. More often, when
the baby is born, they'll test a sample of blood from the umbilical cord. Few
babies are diagnosed with hemophilia in the first 6 months of life. That's
because they're unlikely to have an injury that would lead to bleeding. Bleeding
may happen after a circumcision, which can lead to the diagnosis. As kids get
older and more active, a doctor might suspect hemophilia if a child bruises
easily and bleeds too much when injured. The medical care team usually
includes a hematologist (a doctor who treats blood conditions), a nurse who
specializes in conditions related to bleeding, orthopedists (doctors who care for
bones, joints, and muscles), physical therapists to help with strengthening and
stretching and joint health and social workers and/or psychologists to help kids
and parents cope with hemophilia. The main treatment for hemophilia is factor
replacement therapy. This gives the body the clotting factor it needs. It is given
intravenously (IV, into a vein). A person may get factor replacement on a regular
schedule (known as prophylaxis) or as a treatment for bleeding. Several products
are now available. Talk about treatment options with the hemophilia care team.
Factor replacement can be done at a hospital or hemophilia treatment center, at
home by a nurse and at home by the person with hemophilia or someone else,
after being trained. Doctors also can give medicines to help control bleeding
during procedures (such as dental cleanings) and surgeries. Some people with
hemophilia develop inhibitors (antibodies to the clotting factor). Their bodies
see the new clotting factor as an invader and develop antibodies that block its
clotting action. This can make the hemophilia hard to treat, and requires
different factor replacement therapy.

Hemophilia treatment has come a long way. Most people lead full, healthy
lives with careful management of their condition. Severe Hemophilia presents at
an early age; therefore, attention to family history and early bleeding episodes is
critical. Prophylactic factor therapy should be started at an early age to prevent
major bleeding complications.