Hemophilia is a genetic bleeding disorder caused by deficiencies in clotting factors VIII or IX. The main symptoms are prolonged bleeding after injury or surgery and bleeding into joints or muscles. There are three main types - A, B, and C - defined by which clotting factor is deficient. Treatment involves replacing the missing clotting factor through infusions of plasma-derived or recombinant factor concentrates. Management also focuses on preventing bleeding episodes and complications through measures like RICE, immobilization, exercise, and infection control.

1. Hemophilia: Royal disease

3. Definition:
• Hemophilia is a coagulation disorder arising from a genetic
defect of the X chromosome. Any of several hereditary blood-
coagulation disorders in which the blood fails to clot normally
because of a deficiency or abnormality of one of the clotting
factors. Hemophilia is a recessive trait associated with the X-
chromosome, mostly occurs in males.

4. Incidence:
• 1 per 5,000 male births
• 1 per 10,000 population
• 85 % - F VIII deficiency
• 10- 15 % - F IX deficiency

5. Risk:
• Haemophilia Ratio A: B= 7:1
• Father with Haemophilia: Daughters are carriers ,Sons are normal.
• Mother with haemophilia gene (carrier) ,Sons 50:50 normal or
affected Daughters 50:50 normal or carriers.
• Very rarely, a girl is born with hemophilia. This can happen if her
father has hemophilia and her mother is a carrier.

6. Types:
• Haemophilia A is an X-linked genetic disorder involving a lack
of functional clotting Factor VIII and represents 90% of
hemophilia cases. ( classic Hemophilia)
• Haemophilia B is an X-linked genetic disorder involving a lack
of functional clotting Factor IX . It is more severe but less
common than Hemophilia A ( Christmas disease)
• Haemophilia C is an autosomal recessive genetic disorder
involving a lack of functional clotting Factor XI.

7. Disease Factor deficiency Inheritance
HemophiliaA VIII X linked recessive
Hemophilia B IX X linked recessive
Hemophilia C XI Autosomal
recessive
Parahemophilia V Autosomal
recessive

8. Distribution Clotting
factor
activity
Severe hemophilia 50% <1%
Moderate
hemophilia
10% 1-5%
Mild hemophilia 30-40% 5-40%
The severity of hemophilia is defined by the
measured level of clotting factor activity.

9. Etiology:
• Lack of formation of prothrombin activator
• Deficiency of factor VIII, IX, X. It is caused due
to genetic mutation.

10. Inheritance
 X-Linked Recessive

11. Pathophysiology:

12. Clinical manifestations:
• 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

13. • 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

14. • 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).

15. • 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.

16. • 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

18. Diagnostic evaluation:
History collection
Physical examination
Prolonged APTT
Decreased hemoglobin
Ultrasonography
Clotting factor
concentrates

19. Continue..
• 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.
• 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.

20. Continue..
• ACTIVATED PARTIAL THROMBOPLASTIN TIME (APTT) TEST: This
test measures how long it takes for blood to clot. It measures
the clotting ability of factors VIII (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.
• 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.

21. Continue..
• 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.

22. Continue..
• 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.

23. Management:
• Prenatal testing: If a pregnant woman has a history of
hemophilia, a hemophilia gene test can be done during
pregnancy. A sample of placenta is removed from the uterus
and tested. This test is known as a CVS (chorionic villus
sampling) test.
• Plasma-derived clotting factors - prepared from the plasma of
donated human blood.
• Recombinant clotting factors Desmopressin (DDAVP)(for
hemophilia A).
• This medication is a synthetic hormone which encourages the
body to produce more of its own Factor VIII.

24. • Control topical bleeding like hemarthrosis by 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.

25. • Administering clotting factor concentrates:
The medication is injected into a vein - generally in the
back of the hand or at the crook of the elbow.
• Analgesics
• Desmopressin
• Trasfusion of packed RBCs or blood products to replace blood
volume

26. • Factor concentrates should usually be stored
in a refrigerator but are stable at room
temperature for quite long periods. They
should not be frozen as this may damage the
vials or syringes.
• Avoid IM injections.

27. PREVENTION:
• Control Bleeding Episodes • Local measures: apply direct
pressure; elevate or ice compress • Epistaxis sit up lean
forward
• Prevent joint degeneration • Immobilize joint during
acute bleeding • Progressive exercise • Avoid prolong
immobility

28. Complications

29. Intracranial hemorrhage

30. Intramuscular hematomas

31. Hemarthrosis

32. Infections Related To Blood Transfusion

33. Nursing diagnosis:
• Acute pain related to hemarthrosis/traumatic injury to
muscles/intramuscular bleeding.
• Impaired mobility related to pain and discomfort with the
onset of bleeding episodes/hemarthrosis.
• Impaired skin integrity related to intramuscular bleeding.
• Ineffective circulation related to disease condition.
• Risk for bleeding related to decreased concentration of
clotting factors circulating in the blood (factor VIII and factor
IX)
• Knowledge deficit related to disease condition.