Haemophilia is an X-linked recessive bleeding disorder primarily affecting males, often referred to as 'royal's disease' due to its historical prevalence in European royal families. The condition results from a hereditary deficiency of clotting factors, leading to prolonged bleeding, with severe cases causing spontaneous bleeding in joints and muscles. Management includes prevention strategies, replacement therapy, gene therapy, and treatment to control bleeding episodes.

3. HAEMOPHILIA
PRESENTATION BY : ASHISH RAJPUT
BAMS 4th Yr., Student
Desh Bhagat Ayurvedic
College & Hospital
Mandi Govindgarh.

4. WHAT IS HAEMOPHILIA ?
 World Haemophilia Day is held on 17 April.
 Also known as Royal’s disease, because it was carried by many members of Europe’s royal
families.
 Queen Victoria of England was a carrier of haemophilia.
 X- linked recessive inherited bleeding disorder
 More common in males than females.
 Transmitted via females to men who are sufferers, carry a single mutated gene are generally
asymptomatic and not affected.
 It is a commonest inherited group of bleeding disorder occurring due to hereditary deficiency
of coagulation or low level of clotting factors resulting in excess bleeding in affected
individuals.
 People who have haemophilia often have longer bleeding after some sort of contact to injury.
 People who have severe haemophilia starts to have spontaneous bleeding in the joints and
muscles all around the body.
 It is an INCURABLE disorder.

5. Types of Haemophilia
H. Type A – 80%
H.Type B – 20%

6. Causes of Haemophilia
By Birth
(Genetic) :– most common
Acquired (Autoimmune/mutation):-
Eg. Immune system develops antibodies
Attacking CF VII or IX, etc.
INCIDENCE
• 1 per 5000 males
• 1 per 10000 females

7. GENETICS

11. Females affected only when:
 Turners syndrome
 Mosaicism/Lyonisation
 Mother to Daughter Transmission
(Possible theoretically but extremely
rare )

12. PATHOPHYSIOLOGY
A B

13. Haemophilia A

14. Severity of Haemophilia

16. HAEMOPHILIA B

17. SIGN & SYMPTOMS

18. How is Haemophilia Diagnosed ?
1. By family history
2. Complete haemogram
Hb count – decreased
TLC – normal
DLC – normal
Platelets count – normal
3. X- Ray of joint
Knee, elbow, ankle
4. CT – prolonged
5. PT – usually normal (9-12)sec.
6. APTT(Activated partial thromboplastin time ) –
prolonged 2-3 times (26*3 )sec.
in mild to moderate CF IX deficiency, it may be normal.
Thus, if haemophilia is suspected, a CF IX assay should be performed even if the PTT is
normal

20. Management Options
Management Options
A. Prevention of bleeding episodes (eg. Muscles , nose , superficial rupture etc)
eg. Fibrin glue
Basic t/t is R REST
I ICE PACKS
C COMPRESS
E ELEVATES
B. Replacement therapy
also k/a treatment on demand
replacement of CF VIII or IX to hemostatically adequate plasma levels for prevention or T/T of acute
bleed
Fresh frozen Plasma (FFP) 160-250ml
Cryoprecipitate
F VIII or F IX concentrate
Dose – One unit is defined as amount of F VIII (100ng/ml) or
F IX ( 5micro g/ml) in 1 ml of normal plasma.
F- VIII dose (IU)= Target FVIII - FVIII baseline levels x body weight(kg) x 0.5 unit/kg
level 30-40 to 100-150 U/dL for 5/7 day
F- IX dose (IU) = Target FIX – FIX baseline levels x body weight(kg) x 1 unit/kg
level 30 to 80-100 U/dL for 5/7 day

21. Management Options
Management Options
C. Gene Therapy
D. Desmopressin ( DDAVP )
stimulate & release of stored CF VIII or von Willebrand factor ( it carries & bind F VIII)
Injections or nasal sprays
IV dose – 0.3mcg/kg, in 25-50mL NS over 20-30 min.
Intranasal route 150 mcg to 300 mcg

22. Management Options
Management Options
E. Antifibrinolytic therapy
inhibits the fibrinolysis of thrombus by plasma
eg. TRANEXAMIC ACID
oral – 25mg/kg/dose every 6- 8 hr.
iv – 10mg/kg/dose every 6-8hr.
F. EACA ( Epsilon amino caproic acid )
100 mg/kg 6hr. Oral
minor surgeries , tooth extraction
G. APCC ( activated prothrombin complex concentrates )
increase FVIIa & X , thrombin
H. Analgesics
I. Antibiotics
J. Hematinics

23. Prevention
• Aviod IM injections (apply 5min. Pressure)
• Avoid contact sports
• Orthopedic care – traction ,splinting ,reconstructive surgery
• Prophylactic immunisation
• Proper checkups & Councelling
• Avoid NSAIDS

24. Raise awareness about haemophilia & other bleeding
disorders & to promote advocacy & support for people.