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
patients with mild haemophilia
typically suffer more minor
symptoms except after surgery or
serious trauma. Moderate
haemophiliacs have variable
symptoms which manifest along
a spectrum between severe and
mild forms.
Complications :
1. Bone changes, osteoporosis and
muscle atrophy, resulting in crippling
deformities as a consequence of
hemarthrosis
2. Intracranial bleeding
3. Gastrointestinal hemorrhage,
leading to intestinal obstruction
4. Hematomas in the spinal cord,
resulting in paralysis
5. Airway obstruction due to
bleeding into the neck, mouth or thorax
Laboratory and diagnostic study findings
a. Coagulation studies will reveal
normal prothrombin and bleeding times,
normal fibrinogen levels, low factor VIII in
hemophilia A, low factor IX in hemophilia
B, and a prolonged partial thromboplastin
time.
b. CBC will reveal a normal plate
count.
c. DNA testing for hemophilia A will
detect carriers of the disease
d. Amniocentesis will diagnose
hemophilia prenatally.
Pathophysiology:
Sequential activation of a series of
proenzymes or inactive precursor proteins
(zymogens) to active enzymes, resulting in
significant stepwise response amplification
which is a result of abnormal genetic code
which mainly affects the factor VIII for
hemophilia A and factor IX for hemophilia
B that are both clotting factor.
Due to lack of clotting factors, after an
injury, bleeding may occur depending on the
severity of the punctured wound. Without
proper treatment and care this may
complicate and may lead to death.
Medical Management:
Though there is no cure for
haemophilia, it can be controlled with
regular infusions of the deficient clotting
factor.
1. The main treatment for hemophilia is
“replacement therapy” — giving or
replacing the clotting factor that is too low
or missing.
2. Concentrates of the clotting factor are
infused, or injected, directly into the
bloodstream. The specific factors used to
treat hemophilia are: Factor VIII for
hemophilia A – Factor IX for hemophilia B
3. Replacement therapy can be used:
a. To prevent bleeding (prophylactic
or preventive therapy)
b. To stop bleeding when it occurs,
on an as-needed basis (demand therapy)
4. The type of treatment you receive depends
on several things, including whether you
have mild, moderate or severe hemophilia.
Nursing Management:
1. Assess for acute or chronic bleeding
a. The skin, joints and muscles are
assessment priorities
b. Check vision, hearing, and
neurologic development.
c. Check for hematuria and bleeding
from the mouth, lips, gums and
rectum.
2. Administer the missing clotting factor (ie
factor VIII or factor IX concentrate)
a. Due to recombinant DNA
technology, the risk of transmitting
human immunodeficiency virus
(HIV), hepatitis, and other viruses
has been eliminated because
recombinant factor VIII is not
derived from human plasma.
b. Recombinant factor IX will soon
be available.
3. Administer DDAVP (desmopressin) to
children with mild to moderate hemophilia
A.
a. DDAVP promotes the release of
factor VIII.
b. It is not used in hemophilia B.
4. Prevent or minimize bleeding
a. Assess home safety and teach
about injury prevention. Consider the child’s
developmental level to ask specific safety
questions.
b. Recommend using a soft
toothbrush and point out the need for regular
dental checkups:
c. Major bleeding requires
hospitalization with nursing management.
1. Monitor for bleeding and
its consequences.
2. Provide joint care
(exercise).
d. Control bleeding by applying
pressure and cold to the injury site and by
elevating and immobilizing the injured area.
e. Observe for swelling and
tenderness in the joints, and prevent
contractures. Prevent crippling effects of
joint degeneration by implementing a
physical therapy program.
f. Monitor for signs of hypovolemia.
5. Provide Support
a. Foster the child’s self-esteem by
encouraging him or her to express concerns
and feelings and by promoting a positive
self-image.
b. Encourage family members to
verbalize their feelings, especially about any
guilt they may have due to the genetic nature
of the disorder. Assist their coping efforts by
providing information about the disease and
its management.
c. Refer to the child and family to
support groups such as the national
hemophilia Foundation.
6. Provide the child and family teaching.
 a. Explain how to care for,
administer, store and reconstitute the
replacement factor.
b. Inform the child and family that
superficial injuries are treated with ice and
pressure.
(vasoconstriction), epistaxis: sit
up and lean slightly forward and
systematic measure:
administration of anthemophillic
factor.
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