hemophilia

1. HEMOPHILIA

3. DEFINITION OF HEMOPHILIA
1. Hemophilia is a common hereditary coagulation
blood disorder due to deficiency or reduced
activity of clotting factor VIII or clotting
factor IX. This disorder is a X-linked
recessive disorder.
2. Hemophilia is an inherited bleeding
disorder. Children with hemophilia can’t stop
bleeding because they don’t have enough clotting
factor in their blood.

4. HISTORY OF HEMOPHILIA
Best known of the hereditary bleeding disorders since
2nd century AD.
Originally termed “Haemorraphilia” i.e. love for
haemorrhages but over time contracted to Hemophilia.
Hemophilia is often called the disease of kings,
because it was carried by many members of Europe’s
royal families.
Queen Victoria I of England was a carrier of
haemophilia.

5. 3 MAIN FORMS OF HEMOPHILIA
Hemophilia
A
Hemophilia
B
Hemophilia
C

6. Hemophilia A
• This is caused by a lack of the blood clotting factor VIII.
• About 9 out of 10 people with hemophilia have type A disease.
• This is also referred to as classic hemophilia or factor VIII
deficiency.

7. Hemophilia B
•This is caused by a deficiency of factor IX.
•This is also called Christmas disease or factor
IX deficiency.

8. Hemophilia C
•Some doctors use this term to refer to a lack
of clotting factor XI.

9. CAUSES OH HEMOPHILIA IN
CHILDREN
Hemophilia types A and B are inherited diseases.
They are passed on from parents to children through a gene on the X
chromosome.
Females have two X chromosomes, while males have one X and one Y
chromosome.
A female carrier has the hemophilia gene on one of her X chromosomes.
When a hemophilia carrier female is pregnant, there is a 50/50 chance
that the hemophilia gene will be passed on to the baby.

10. CAUSES OH HEMOPHILIA IN
CHILDREN
• 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.

12. SYMPTOMS OF HEMOPHILIA
• The most common symptom of this disorder is heavy,
uncontrollable bleeding.

13. Other symptoms like –
Bruising: Bruises can occur from even
small accidents. This can result in a large
build up of blood under the skin causing
swelling (hematoma). For this reason,
most children are diagnosed around 12 to
18 months of age. This is when the child is
more active.

14. SYMPTOMS OF HEMOPHILIA
Bleeds easily –
• A tendency to bleed from the nose, mouth,
and gums with minor injury. Bleeding
while brushing teeth or having dental
work often suggests hemophilia.

15. SYMPTOMS OF HEMOPHILIA
Bleeding into a joint.
• Hemarthrosis (bleeding into a joint) can cause pain,
immobility, and deformity if not treated.
Bleeding into the muscles.
• Bleeding into the muscles can cause swelling, pain, and
redness.

16. SYMPTOMS OF HEMOPHILIA
Bleeding in the brain from injury or spontaneously.
• Bleeding from injury, or spontaneously in the brain, is the most
common cause of death in children with hemophilia and
the most serious bleeding complication. Bleeding in or around
the brain can occur from even a small bump on the head or a
fall.

17. SYMPTOMS OF HEMOPHILIA
Other sources of bleeding.
• Blood found in the urine or stool may also signal
hemophilia.

18. DIAGNOSIS
History collection
Physical examination
Complete blood count (CBC).
Clotting factors
Bleeding times - To test the speed that blood clots.(The normal
bleeding time is between 2-7 minutes. The normal clotting
time in a person is between 8-15 minutes. )
Genetic or DNA testing - To check for abnormal genes

19. TREATEMENT STRATEGIES
1. Prevention of bleeding episodes.
2. Replacement therapy.
3. Desmopressin
4. Other therapies

20. 1. PREVENTION
• Control Bleeding Episodes
Local measures: apply direct pressure; elevate or ice compress
Epistaxsis: sit up lean forward

21. 1. PREVENTION
• Prevent joint degeneration
Immobilize joint during acute bleeding
Progressive exercise
Avoid prolong immobility

22. 2. REPLACEMENT THERAPY
i. Fresh whole blood
ii. Whole plasma
iii. Fresh Frozen Plasma
iv. Factor VIII or IX Concentrate

23. 3. DESMOPRESSIN(man-made form of
vasopressin/antidiuretic hormone)
• Action: stimulates the release of clotting factor VIII and Von
Willebrand factor. Von Willebrand factor(carrier protein of
factor VIII) carries and binds factor VIII, which then can stay in
the blood stream longer.
• Administration: Injection or Nasal spray.

24. OTHER THERAPIES
•Rest
•Ice pack
•Compress
•Elevate