HEMOPHILIA

DEFINITIONS
Hemophilia is an X-linked recessive hemorrhagic disease. It is a genetic disease
due to mutations in the F8 gene (hemophilia A or classic hemophilia) or F9 gene
(hemophilia B or Christmas disease). Patients with hemophilia have normal
bleeding times and platelet counts.

Types of hemophilia
Hemophilia A, which is caused by a lack of clotting factor VIII. Approximately
85 percent of hemophiliacs have type A disease.
Hemophilia B, which is caused by a deficiency of factor IX.
 PATHOPHYSIOLOGY

The patient is missing a coagulation factor that is essential for normal blood
clotting and as a result the blood does not clot when the patient bleeds. It is an
X-linked recessive inherited disorder, passed on so that it presents symptoms in
males, and rarely in females. Hemophilia A is the result of missing clotting
factor VIII. Hemophilia B is the result of missing clotting factor IX and is also
known as Christmas disease.
FVIII deficiency arise from a large inversion that disrupts the FVIII gene.
Deletions, insertions, and point mutations account for the remaining 50-60% of
the F8C defects that cause hemophilia A.
Low FVIII levels may arise from defects outside the FVIII gene, as in type IIN
von Willebrand disease, in which the molecular defect resides in the FVIII-
binding domain of von Willebrand factor.
CAUSES OF HEMOPHILIA

A female carrier of hemophilia has the hemophilia gene on one of her X

chromosomes.
When a female hemophilia carrier is pregnant, there is a 50/50 chance that the
hemophilia gene will be passed on. If the gene is passed on to a son, he will have
the disease. If the gene is passed on to a daughter, she will be a carrier.
If the father has hemophilia but the mother does not carry the hemophilia gene,
then none of the sons will have hemophilia disease, but all of the daughters will
be carriers.
Hemophilia is related to the x-kinked recessive trait which manifest almost
exclusively as affected males and carrier females. A daughter who inherits the
traits from her father has 50/50%chances at each pregnancy of transimiting to her
sons.
 CONT’

However as many as one-thirds of hemophilia has no family

members with history of clotting disorders. In these cases, the disorder
is caused by a new mutation.
The degree of hemophilia depend on the degree of the clotting factors,
and degree of severity of injury.
 SIGNS AND SYMPTOMS

 Children do not present any manifestation until 6months they become mobile and
get injuries and bleeding from tooth eruption.
 Tender joints due to bleeding
 Swelling of knees, ankles, hips, and elbows due to bleeding
 Blood in stool (tarry stool) due to GI blood loss
 Blood in the urine (hematuria)
 Bleeding: is a characteristic sign of hemophilia: bleeding after minor trauma,
bleeding in the joints, soft tissue, muscle
 Bleeding easily from the nose, mouth and gums due to minor trauma, teeth
brushing, and/or dental work.
 CONT’
there is bleeding into the oropharyngeal spaces,
Bleeding into central nervous system,
 or the retro peritoneum which is life-threatening and requires
immediate therapy.
The disease is more evident when children begin to walk.
Bruising can occur from small accidents, which can result in a large
hematoma (a collection of blood under the skin that causes swelling).
 CONT’
Bleeding into a joint, called hemarthrosis, can cause pain, immobility
This can eventually leads to deformity if not medically managed properly.
This is the most common cause of complications due to hemophilia bleeding.
Repeated joint bleeds can lead to chronic and painful arthritis, deformity
Bleeding into the muscles can cause swelling, pain, and redness. Swelling from
excessive blood in these areas can increase pressure on tissues and nerves in the
area, resulting in permanent damage and/or deformity.
 CONT’

Bleeding from injury or bleeding in the brain is the most common cause of
death in children with hemophilia and the most serious bleeding complication.
 A brain hemorrhage can occur from even a small bump on the head or a fall.
Small bleeds in the brain can result in blindness, mental retardation, and a
variety of neurological deficits, and they can lead to death if not recognized and
treated immediately.
Female who carry the traits of hemophilia don’t manifest the symptoms of the
diseases. however they may show prolonged dental bleeding dent work, broses.
or surgery or trauma
INTERPRETING TEST RESULTS (THE
PARACLINICAL EXAMINATIONS)
Diagnosis of affected individual and carries can be done before birth
Through chorionic villus sampling or amniocentesis. Genes for clotting
VIII and IX are located near the terminal long arm of the X
chromosome.
Diagnosis can also be based on the history taking ,and physical
assessment.
The laboratory test will show the lower level of the factor VIII and IX
and prolonged Activated Partial Thromboplastic Time(PTT),Normal
prothrombin time(PT),Normal Thrombin Time(TT),fibrinogen and
Platelet which are Normal.
CONT’
Decrease in clotting factor VIII found in blood serum in Hemophilia
A.
Decrease in clotting factor IX found in blood serum in Hemophilia B.
Clotting factor levels testing
Complete blood count (CBC)
Assessment of bleeding times
Genetic testing and genetic testing for familliy members
TREATMENT

The goal of medical management if to control the bleeding by replacing the

missing clotting factor. replacement therapy is indicated for when the child
experiences mild or major hemorrhage or face life threatening situations.
Avoid aspirin.
For hemophilia A administer factor VIII concentrates.
Cryoprecipitate.
The effective drug is Desmopressin Acetate . It is administered intravenously
DDAVP (desmopressin) for patients with mild deficiency.
Mechanism of Action
Synthetic analogue of vasopressin with prompt onset and longer, more specific
antidiuretic action; desmopressin increases water permeability in renal tubular
cells, which in turn decreases urine volume and increases urine osmolality
 CONT’
Can be intravenously administered at a dose of 0.3 mcg/kg of body
weight in the inpatient setting .Peak effect is observed in 30-60
minutes
A concentrated DDAVP intranasal spray is available for outpatient
use.
For hemophilia B, administer factor IX concentrates
TREATMENT DEPENDS ON THE TYPE AND SEVERITY OF
THE HEMOPHILIA.

 The goal of hemophilia treatment is preventing bleeding complications

(primarily head and joint bleeds) parents can prevent bleeding
complications by:
 Purchasing soft toys with rounded corners
 Dressing children in padded clothing and helmets
 Evaluating contact sports
 Having proper dental hygiene.
 Not giving the child aspirin and aspirin-containing products
HEALTH CARE PROVIDERS MAY TAKE THESE
PREVENTATIVE STEPS:

oGive immunizations under the skin to prevent deep muscle bleeds.

oRecommend surgery for joint hemorrhages and/or immobilization.
oRehabilitation of the affected joint may include physical therapy and
exercise to strengthen the muscles around the area.
oRecommend infusions of replacement blood factors to increase the
child’s clotting levels before surgery or dental work
CONT’
The child also may receive infusions during and after the surgery to maintain the
clotting factor levels and to improve healing and prevention of bleeding after the
procedure.
Blood transfusions may be necessary if significant blood loss has occurred
COMPLICATIONS
Deep internal bleeding
in deep muscle can cause your limbs to swell.
The swelling may press on nerves and lead to numbness or pain
CONT’
Damage to joints and cartilage
Left untreated, frequent internal bleeding may cause arthritis
Infection. People with hemophilia are likelier to have blood
transfusions, increasing their risk of receiving contaminated blood
products
subchondral bone-cyst formation
permanent deformities and misalignment
loss of mobility
 extremities of unequal lengths
ADVERSE REACTION TO CLOTTING FACTOR
TREATMENT
 In some people with 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.
NURSING DIAGNOSES
 Acute pain
 Impaired gas exchange
NURSING INTERVENTION

No IM injections.
No aspirin.
To stop bleeding:
Elevate site.
Apply direct pressure to the site.
Explain to the patient:
CONT’

Wear a medical alert identification.

The adolescent should be screened for HIV
Medical history
Contact physician for any injury.
Avoid situations where injury might occur.