Hemophilia is a genetic bleeding disorder caused by mutations affecting blood clotting factors VIII or IX. It impairs the body's ability to control bleeding. Hemophilia A is more common, affecting about 1 in 5,000-10,000 male births. Symptoms include excessive bleeding after injuries or surgery, frequent nosebleeds, and bleeding into joints or muscles. Treatment involves replacing the missing clotting factor through infusions to prevent or treat bleeding episodes. Nursing care focuses on emotional support, administering clotting factor treatments, controlling bleeding, preventing joint damage, and educating patients.

1. HEMOPHILIA
PREPARED BY:
JAGDISH SAMBAD
M.SC. NURSING-MSN
ASSI.PROF.

2. INTRODUCTION
• Hemophilia 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 (clotting factorVIII deficiency) is the
most common form of the disorder, present in about 1
in 5,000–10,000 male births.
• Haemophilia B (factor IX deficiency) occurs in around 1
in about 20,000–34,000 male births.

3. Injury in blood
vessels
Platelets
Release of
thrombokinase
Prothrombin Thrombin
Fibrinogen
Platelets clump at the
wound
Thrombokinase
Calcium ions
Clot forms to stop further
blood loss
Vitamin K

4. WHY IS BLOOD CLOTTING
NEEDED??
• To prevent excessive blood loss from the body when there is a damage of
the blood vessel
• Maintain blood pressure to ensure proper blood circulation
• Prevent the entry of microorganisms and foreign particles into the body
through the wound
• Promote wound healing

5. HEMOPHILIA

6. History of royal disease - hemophilia
• Hemophilia is sometimes referred to as
“the royal disease,” because it affected
the royal families of England, Germany,
Russia and Spain in the 19th and
20th centuries.
• Queen Victoria of England, who ruled
from 1837-1901, is believed to have been
the carrier of hemophilia B, or factor IX
deficiency.
• She passed the trait on to three of her
nine children. Her son Leopold died of a
hemorrhage after a fall when he was 30.
Her daughters Alice and Beatrice passed
it on to several of their children

7. DEFINITION OF HEMOPHILIA
• Haemophilia 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 is a hereditary bleeding disorder,
in which there is a partial or total lack of an
essential blood clotting factor. It is a lifelong
disorder, that results in excessive bleeding, and
many times spontaneous bleeding, which, very
often , is internal. -WHO

8. INCIDENCE
• HemophiliaA (clotting factorVIII deficiency) is
the most common form of the disorder,
present in about 1 in 5,000–10,000 male births.
• Hemophilia B (factor IX deficiency) occurs in
around 1 in about 20,000–34,000 male births.
• Like most recessive sex-linked, X chromosome
disorders, hemophilia is more likely to occur in
males than females

9. CAUSES
• Genetic mutation --Inherited hemophilia
• Hemophilia 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. It is caused by a fault in
one of the genes that determine how the body
makes blood clotting factorVIII or IX.These
genes are located on the X chromosome.

12. • Very rarely, a girl is born with hemophilia.This
can happen if her father has hemophilia and
her mother is a carrier.

13. TYPES OF HEMOPHILIA
• Through blackboard

14. HEMOPHILIA SEVERITY
• Severe 0% - 1% factor level. About 80% of hemophilia
sufferers are considered severe. Severe hemophilia
sufferers will have excessive bleeding after injuries,
surgery and can also have spontaneous bleeding
episodes.They can also have joint bleeding and
prolonged bleeding into the muscles, sometime times
without the person's knowledge. Joint bleeding can
cause joint deterioration and arthritis down the road.
• Moderate 1% - 5% factor level. About 10% of
hemophilia sufferers are considered moderate.
Moderate sufferers may have spontaneous bleeding
episodes and will probably have prolonged bleeding
after injuries.

15. CONT…
• Mild 5% - 50% factor level. About 10% of
hemophilia sufferers are considered mild.
These people have prolonged bleeding after a
serious injury, trauma or surgery. In many
cases, mild hemophilia is not discovered until
there is excessive bleeding after a surgery or
injury. In fact, it may not even be discovered
until adulthood.

16. SEVERITY OF HEMOPHILIA

17. SIGNS AND SYMPTOMS OF
HEMOPHILIA

18. Bleeding into joints/muscle
causes pain and swelling
Frequent nose bleeds and
abnormal bleeding after injury or
surgery
Blood found in urine and easy
bruising
SIGNS AND SYMPTOMS

19. EXTERNAL BLEEDING MAY INCLUDE:
• Bleeding in the mouth from a cut or bite or from cutting
or losing a tooth.
• Nosebleeds for no obvious reason.
• Heavy bleeding from a minor cut.
• Bleeding from a cut that resumes after stopping for a
short time.
INTERNAL BLEEDING MAY INCLUDE:
• Blood in the urine (from bleeding in the kidneys or
bladder).
• Blood in the stool (from bleeding in the intestines or
stomach).
• Large bruises (from bleeding into the large muscles of the
body).

20. BLEEDING IN THE JOINTS
• Bleeding in the knees, elbows, or other joints is
another common form of internal bleeding in people
who have hemophilia.
• The bleeding causes tightness in the joint with no real
pain or any visible signs of bleeding. The joint then
becomes swollen, hot to touch, and painful to bend.
BLEEDING IN THE BRAIN
• Long-lasting, painful headaches or neck pain or
stiffness
• Sudden weakness or clumsiness of the arms or legs or
problems walking
• Double vision
• Convulsions or seizures

21. BLEEDING FROMTHE MOUTH OR
NOSEBLEEDS
• Bleeding after dental procedures is common, and oozing
of blood from the gums may occur in young children
when new teeth are erupting.

22. DIAGNOSTIC MEASURES
• Diagnosis includes screening tests and clotting
factor tests.This blood test shows the type of
hemophilia and the severity.
FAMILY HISTORY
• Any family history of bleeding, such as
following surgery or injury, or unexplained
deaths among brothers, sisters, or other male
relatives such as maternal uncles, grandfathers,
or cousins should be discussed with a doctor to
see if hemophilia was a cause.

23. SCREENING TESTS
• Screening tests are blood tests that show if
the blood is clotting properly.Types of
screening tests:
Complete Blood Count (CBC)
• This common test measures the amount of
hemoglobin, the size and number of red
blood cells and numbers of different types of
white blood cells and platelets found in
blood.The CBC is normal in people with
hemophilia.

24. ACTIVATED PARTIAL THROMBOPLASTIN TIME
(APTT) TEST
• This test measures how long it takes for blood to
clot. It measures the clotting ability of factorsVIII
(8), IX (9), XI (11), and XII (12). If any of these clotting
factors are too low, it takes longer than normal for
the blood to clot.The results of this test will show a
longer clotting time among people with hemophilia
A or B.

25. PROTHROMBIN TIME (PT) TEST
• This test also measures the time it takes for blood
to clot. It measures primarily the clotting ability of
factors I (1), II (2),V (5),VII (7), and X (10). If any of
these factors are too low, it takes longer than
normal for the blood to clot.The results of this test
will be normal among most people with hemophilia
A and B.

26. FIBRINOGEN TEST
• This test also helps doctors assess a patient’s
ability to form a blood clot.This test is ordered
either along with other blood clotting tests or
when a patient has an abnormal PT or APTT
test result, or both.
CLOTTING FACTOR TESTS
• Clotting factor tests, also called factor assays,
are required to diagnose a bleeding disorder.
This blood test shows the type of hemophilia
and the severity.

27. FETAL DIAGNOSIS
• Pregnant women who are known hemophilia carriers can have
the disorder diagnosed in their unborn babies as early as 12
weeks into their pregnancies.
• Women who are hemophilia carriers also can have
"preimplantation diagnosis" to have children who don't have
hemophilia.
• For this process, women have their eggs removed and fertilized
by sperm in a laboratory. The embryos are then tested for
hemophilia.

28. TREATMENT
CLOTTING FACTOR CONCENTRATES
• Hemophilia can be treated by replacing missing blood
clotting factors.This is called clotting factor replacement
therapy. Clotting factors are replaced by injecting
(infusing) a clotting factor concentrate into a vein.
Infusions of clotting factors help blood to clot normally.
• Clotting factor replacement therapy can treat bleeding
episodes or prevent bleeding. It can prevent severe blood
loss and complications from bleeding such as damage to
muscle, joints, and organs.

29. DESMOPRESSIN (DDAVP)(FOR HEMOPHILIA A)
This medication is a synthetic hormone which
encourages the body to produce more of its own Factor
VIII.
RICE (REST, ICE, COMPRESSION, ELEVATION)
RICE is a treatment many health care professionals
recommend for joint bleeds. It also reduces swelling and
tissue damage when used together with clotting factor
concentrates.

30. Gene Therapy
• Researchers are trying to develop ways to
correct the defective gene’s that cause
hemophilia
• Such as gene therapy hasn’t yet developed to
the point that its an accepted treatment
• Researchers continue to test
gene therapies for hemophilia
in clinical trails

32. ANTIFIBRINOLYTIC MEDICINES
• Antifibrinolytic medicines may be used
with replacement therapy.They're usually
given as a pill, and they help keep blood
clots from breaking down.
• These medicines most often are used
before dental work or to treat bleeding
from the mouth or nose or mild intestinal
bleeding.

33. COMPLICATION
 Compartment syndrome
 Bleeding or life-threatening hemorrhage
 Joint and/or muscular damage (e.G.,
Contractures, synovitis, arthropathy, pseudo
tumor, muscle atrophy)
 Allergic reaction to infused product
 Development of treatment-related inhibitors to
factor VIII or factor IX
 Blood-borne infections

34. PREVENTION OF
BLEEDING
Avoid IM injections Avoid contact sports

35. Control Bleeding
Episodes
• Local measures:
apply direct pressure;
elevate or ice compress
• Epistaxis sit up lean
forward

36. Prevent joint degeneration
• Immobilize joint during acute
bleeding
• Progressive exercise
• Avoid prolong immobility

37. NURSING MANAGEMENT

38. NURSING ASSESSMENT
• Obtain history of and observe for unusual bleeding”
ecchymosis, prolonged bleeding from mucous
membranes and lacerations, hematomas,
hemarthroses, hematuria, rectal and GI bleeding.
• Assess joints for swelling, warmth, tenderness,
range of motion (ROM), contractures, and
surrounding muscle atrophy.
• Assess family resources and coping skills.

39. NURSING DIAGNOSIS
• Risk for Deficient FluidVolume related to hemorrhage
• Ineffective Protection related to inability of blood to clot
• Impaired Physical Mobility related to repeated
hemarthroses
• Acute Pain related to bleeding into joints and muscles
• Ineffective Family Coping related to disabling and life-
threatening disease

40. NURSING INTERVENTIONS:
• Provide emotional support, and listen to the patient’s fear’s
and concerns.
• If the patient has surface cuts or epistaxis, apply pressure.
• Give the deficient clotting factor or plasma, as ordered.
• Apply cold compress or ice bags and raise the injured part.
• To prevent recurrence of bleeding, restrict activity for 48
hours after bleeding is under control.
• Control pain with an analgesics, as ordered.

41. • If the patient can’t tolerate activities because of blood loss,
provide rest periods between activities.
• To restore joint mobility, if ordered, begin range of motion
exercises at least 48 hours after the bleeding is controlled.
• Watch for signs and symptoms of decreased tissue perfusion
such as restlessness, anxiety, confusion, pallor, cool and
clammy skin, chest pain, decreased urine output.
• Tell the patient to avoid heavy lifting and using power tools
because they risk of injury that can result in serious bleeding
problem.
• Advise the patient to notify the doctor immediately after even
a minor injury
• Teach the patient the importance of protecting his veins for
lifelong therapy