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Hemophilia

by: Suico, Domine Mar Manuel L.

Definition:
- from the Greek haima means
'blood' and philia 'love'
- a sex-linked trait bleeding
disorder (deficiency of one or
more clotting factors) affecting
sons and transmitted by symptom
free mothers.
- is a group of hereditary genetic
disorders that impair the body's
ability to control blood clotting
or coagulation, which is used to
stop bleeding when a blood
vessel is broken - Haemophilia A or classic
- Factor VIII (FVIII) is an hemophilia is a recessive X-linked genetic
essential blood clotting factor disorder involving a lack of functional
also known as anti-hemophilic clotting Factor VIII and
factor (AHF). represents 80% of haemophilia cases.
Etiology:
- Haemophilia B or Christmas
Hemphilia is an X-linked recessive disease is a recessive X-linked genetic
disorder transmitted by females and found disorder involving a lack of functional
predominantly in males. It may also caused clotting Factor IX. It comprises
by gene mutation. approximately 20% of haemophilia cases.

Clinical Manifestations:

- In newborn (male), unusual


bleeding in the umbilical cord.
Then, excessive and easy
bruising, prolonged bleeding,
hemathrosis(bleeding of the
joints), petechiae, epistaxis
(nosebleeding) and anemia.

- In general symptoms are internal


or external bleeding episodes,
which are called "bleeds"
- Patients with more severe
haemophilia suffer more severe
and more frequent bleeds, while Pathophysiology:
patients with mild haemophilia
typically suffer more minor Sequential activation of a series of
symptoms except after surgery or proenzymes or inactive precursor proteins
serious trauma. Moderate (zymogens) to active enzymes, resulting in
haemophiliacs have variable significant stepwise response amplification
symptoms which manifest along which is a result of abnormal genetic code
a spectrum between severe and which mainly affects the factor VIII for
mild forms. hemophilia A and factor IX for hemophilia
B that are both clotting factor.
Complications : Due to lack of clotting factors, after an
injury, bleeding may occur depending on the
1. Bone changes, osteoporosis and severity of the punctured wound. Without
muscle atrophy, resulting in crippling proper treatment and care this may
deformities as a consequence of complicate and may lead to death.
hemarthrosis

2. Intracranial bleeding Medical Management:

3. Gastrointestinal hemorrhage, Though there is no cure for


leading to intestinal obstruction haemophilia, it can be controlled with
regular infusions of the deficient clotting
4. Hematomas in the spinal cord, factor.
resulting in paralysis
1. The main treatment for hemophilia is
5. Airway obstruction due to “replacement therapy” — giving or
bleeding into the neck, mouth or thorax replacing the clotting factor that is too low
or missing.

Laboratory and diagnostic study findings 2. Concentrates of the clotting factor are
infused, or injected, directly into the
a. Coagulation studies will reveal bloodstream. The specific factors used to
normal prothrombin and bleeding times, treat hemophilia are: Factor VIII for
normal fibrinogen levels, low factor VIII in hemophilia A – Factor IX for hemophilia B
hemophilia A, low factor IX in hemophilia
B, and a prolonged partial thromboplastin 3. Replacement therapy can be used:
time.
a. To prevent bleeding (prophylactic
b. CBC will reveal a normal plate or preventive therapy)
count.
b. To stop bleeding when it occurs,
c. DNA testing for hemophilia A will on an as-needed basis (demand therapy)
detect carriers of the disease
4. The type of treatment you receive depends
d. Amniocentesis will diagnose on several things, including whether you
hemophilia prenatally. have mild, moderate or severe hemophilia.
Nursing Management: b. Recommend using a soft
toothbrush and point out the need for regular
1. Assess for acute or chronic bleeding dental checkups:

a. The skin, joints and muscles are c. Major bleeding requires


assessment priorities hospitalization with nursing management.

b. Check vision, hearing, and 1. Monitor for bleeding and


neurologic development. its consequences.

c. Check for hematuria and bleeding 2. Provide joint care


from the mouth, lips, gums and (exercise).
rectum.
d. Control bleeding by applying
2. Administer the missing clotting factor (ie pressure and cold to the injury site and by
factor VIII or factor IX concentrate) elevating and immobilizing the injured area.

a. Due to recombinant DNA e. Observe for swelling and


technology, the risk of transmitting tenderness in the joints, and prevent
human immunodeficiency virus contractures. Prevent crippling effects of
(HIV), hepatitis, and other viruses joint degeneration by implementing a
has been eliminated because physical therapy program.
recombinant factor VIII is not
derived from human plasma. f. Monitor for signs of hypovolemia.

b. Recombinant factor IX will soon 5. Provide Support


be available.
a. Foster the child’s self-esteem by
3. Administer DDAVP (desmopressin) to encouraging him or her to express concerns
children with mild to moderate hemophilia and feelings and by promoting a positive
A. self-image.

a. DDAVP promotes the release of b. Encourage family members to


factor VIII. verbalize their feelings, especially about any
guilt they may have due to the genetic nature
b. It is not used in hemophilia B. of the disorder. Assist their coping efforts by
providing information about the disease and
4. Prevent or minimize bleeding its management.

a. Assess home safety and teach c. Refer to the child and family to
about injury prevention. Consider the child’s support groups such as the national
developmental level to ask specific safety hemophilia Foundation.
questions.
6. Provide the child and family teaching.
a. Explain how to care for, (vasoconstriction), epistaxis: sit
administer, store and reconstitute the up and lean slightly forward and
replacement factor. systematic measure:
administration of anthemophillic
b. Inform the child and family that factor.
superficial injuries are treated with ice and
pressure. 3. Prevent Joint Degeneration

c. Identify signs of hemarthrosis and - Immobilize joint during acute


teach parents how to immobilize the joint, bleeding (and 2 days after),
pack it in ice, and administer replacement progressive exercise (passive
factor. ROM to active ROM to full
exercise program), avoid
d. Assist the child and parents to prolonged immobility.
recognize signs of major bleeding (central
nervous system manifestations such as 4. Encouraged Self Care
headache, blurred vision, vomiting, lethargy, - wear medic-alert identification
confusion and seizures) card, caution against overprotecting which
will affect self-esteem.
e. Explain the possible side effects of
therapy.

f. Demonstrate passive ROM


exercises.

g. Emphasize avoidance of aspirin


and aspirin-containing compounds.

h. Provide diet information because


weight increase can impose further stress on
joints.

Nursing Goals:

1. Prevent Injury and Possible Bleeding

- provide safe environment, soft


bristle toothbrush and no razors,
avoid IM and IV ( if so, apply
direct pressure for at least 5 mins
and no aspirin.

2. Control Bleeding Episodes

- Local measures: apply direct


pressure, elevate, or ice compress