Hemophilia is an inherited bleeding disorder caused by deficient or defective clotting factors, predominantly factor VIII and IX. It is passed from mother to son and results in prolonged or excessive bleeding from minor injuries, surgery, or trauma. There are three main types - A, B, and C - based on the specific clotting factor deficiency. Treatment involves replacement of the missing clotting factor through infusions to prevent or stop bleeding episodes. Research continues to develop new treatment options that are more convenient for patients living with this life-long condition.

1. HEMOPHILIA
Hanisha Erica P.Villaester

2. OVERVIEW
HEALTHY
HEMOPHILIA

3. OVERVIEW

4. HISTORYOF
HEMOPHILIA
 "royal disease“
 hemophilia gene was passed
from QueenVictoria of
England in 1837 to the ruling
families of Russia, Spain, and
Germany
 In 1828, Dr. Schonlein first
coined the term
“haemorrhaphilia” for the
hemorrhagic condition

5. HEMOPHILIA
INTHE ROYAL
FAMILY

6. WHAT IS
HEMOPHILIA?
 Hemophilia- “love of bleeding”
 Inherited hemorrhagic disorder caused by deficiency of
factorVIII, factor IX or factor XI
 X – Linked Recessive Inheritance
 Affects males only, females act as carriers
***Female who carry a single mutated gene are generally
asymptomatic

7. COAGULATION
CASCADE

8. OVERVIEW

9. TYPESOF
HEMOPHILIA
DISEASE
FACTOR
DEFICIENCY
INHERITANCE
HEMOPHILIAA VIII X-LINKED RECESSIVE
HEMOPHILIA B IX X-LINKED RECESSIVE
HEMOPHILIAC XI
AUTOSOMAL
RECESSIVE
PARAHEMOPHILIA
(OWREN’s DISEASE)
V
AUTOSOMAL
RECESSIVE
VONWILLEBRAND
DISEASE VIII:vW Autosomal dominant

10. HEMOPHILIAA
X-linked Inherited Disease
Lack or abnormal production of
FACTORVIII
Factor VIII:C or antihemolytic factor
Most common : 85%
1 in 5000-10000 males
 60% with severe disease
 Activity < 1%

11. HEMOPHILIAA
CLASSIFICATION DISTRIBUTION
CLOTTING FACTOR
ACTIVITY
SEVERE
HEMOPHILIA
50% <1%
MODERATE
HEMOPHILIA
10% 1-5%
MILD
HEMOPHILIA
30-40% 5-40%

12. HEMOPHILIAA
TWO MAJORTYPES OF BLEEDING
1. Spontaneous Bleeding
• Severely affected haemophiliacs
• Bleeding into muscles (hematomas)
• Bleeding into joints (hemarthrosis)
• May result in crippling
2. Post traumatic Bleeding
• Produce large hematomas
• Dangerous: causes increase pressure on
nerves and blood vessels
• Vascular obstruction may develop into
local gangrene

13. HEMOPHILIA B
Factor IX deficiency
10% of all hemophilias
1 in 25000-35000 males
Bleeding is not as severe
Factor IX is more stable than factorVIII
30% spontaneous mutation
50% with mild to moderate disease
 Activity > 1%
Christmas disease (1952)

14. HEMOPHILIAC
Rosenthal Syndrome
Least common: less than 5%
Factor XI Deficiency
Autosomal Recessive Inherited Disease
Common among Ashkenazi Jews

15. CLINICAL
MANIFESTATION
First discovered during infancy or early
childhood
 Bleeding into muscle
 Deep bruises after receiving shots
 Prolonged bleeding after male child is
circumcised
 Prolonged bleeding after umbilical cord is cut

16. CLINICAL
MANIFESTATION 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
GENERAL SYMPTOMSCLINICAL
MANIFESTATION

17. BLEEDING INTO MUSCLES
Symptoms:
 Bruising
 Swelling
 Muscle hardening
 Tenderness
 Pain
 Especially when large muscle
groups are affected
CLINICAL
MANIFESTATION

18. CLINICAL
MANIFESTATION
COMPARTMENT SYNDROME
Complication of bleeding to in certain muscles which puts
pressure on arteries and nerves
Symptoms:
 Weakness and paleness in affected extremity
 Swelling and numbness
 Severe pain during movement
 Inability to move an extremity
 PARALYSIS

19. TREATMENT
OVERVIEW  Genetic
- Only women can be carriers
- Can be determined by a blood test
 Treatment starts at birth
 ReplacementTherapy of deficient factor
 Fresh frozen plasma
 Freeze dried purified concentrate of coagulation
factors

20. HEMOPHILIA
CARE Children with Hemophilia can learn to self-
administer their replacement clotting
factors as young as 10 years old

21. CURRENT
RESEARCH
 FDA, Food and Drug Association
 has approved a new drug
 Drug containing clotting factor can be kept at
room temperature
 makes it easier for small hospitals who lack of
freezers
 Negative factor: can only be kept for two years
instead of three

22. THERAPY
 .
 .
ShortTerm
LongTerm ShortTerm
• The people have to
take medicine for the
rest of their lives.
• Have to be very careful
about injuries
• Have to learn to
recognize all of the
symptoms of their
disease

23. Thank you!