2. Congenital haemophilia
• Recessive, X-linked, bleeding
disorder1
• Most commonly caused by genetic
mutations1
• Factor VIII (FVIII) (haemophilia A)
• Factor IX (FIX) (haemophilia B)
• Approximately 1:5000 males are
born with congenital haemophilia1
• Spontaneous mutations may occur,
resulting in individuals having
haemophilia with no prior family
history1
80%
20%
Haemophilia A Haemophilia B
Identified
patients
-
%
of
the
total
haemophilia
population
1. Srivastava A et al. Haemophilia 2013;19:e1–47
3
Graph adapted from Srivastava A et al, 20131
3. Incidence of different sites of bleeding
• Haemarthrosis: 70%-80%
• Muscle/soft tissue: 10%-20%
• Other major bleeds: 5%-10%
• Central nervous system (CNS) bleeds: < 5%
A. Srivastava et al., WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
4. Joint bleeds
• Most common manifestation of congenital haemophilia: 70–90% of all
bleeding episodes occur in the joints1
May lead to permanent joint
damage2,3
A major cause of serious bleeding
events, disability and reduced
quality of life4
Shoulder
(4%)
Elbow
(21%)
Wrist
(2%)
Hip
(4%)
Ankle
(42%)
Knee
(20%)
1. Srivastava A et al. Haemophilia 2013;19:e1–47; 2. Valentino LA et al. Haemophilia 2012;18:310–318; 3. Mejia-Carvajal C et al. Haemophilia 2008;14:119–126;
4. Simpson ML, Valentino LA. Expert Rev Hematol 2012;5:459–468
7
5. Haemophilia: Clinical Classification
Cause of bleeding
episodes
Pattern of
bleeding
episodes
FVIII/FIX activity
(% of normal)
Classification
Spontaneous
24–48
per year
<1%
Severe
Minor
trauma
4–6
per year
1%–≤5%
Moderate
Major trauma
Surgery
Uncommon
>5%–<40%
Mild
A. Srivastava et al., WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van Den Berg HM, Srivastava A, J Thromb Haemost 2014; 12:1935–9
6. Congenital haemophilia is transmitted
from female carriers
Inheritance from a male with
congenital haemophilia
Inheritance from a female carrier
Father
XY
Daughter
XX
Son
XY
Daughter
XX
Mother
XX
Son
XY
None of the sons will have congenital haemophilia
All daughters are carriers
Father
XY
Daughter
XX
Son
XY
Daughter
XX
Mother
XX
Son
XY
Sons have a 50% probability of having congenital haemophilia
Daughters have a 50% probability to be carriers
Friedman K et al. Wintrobe’s Clinical Hemat 2009;2:1379–1424
4
7. Screening tests for any bleeding disorder
Haemophilia: Prolonged aPTT
Possible
condition
PT aPTT BT Platelet count
Normal Normal Normal Normal Normal
Haemophilia
A & B
Normal Prolonged Normal Normal
vWD Normal Normal or
prolonged
Normal or
prolonged
Normal or reduced
Platelet defect Normal Normal Normal or
prolonged
Normal or reduced
A. Srivastava et al., WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
8. Factor assay: definitive diagnosis
• To confirm diagnosis (Once in life time test provided it is
done in a lab with good quality control)
• To detect carriers
• Each coagulation factor must be present in sufficient quantity
in order for normal clotting to occur
• Results are frequently reported as a percentage
• 50% - 150% : normal
A. Srivastava et al., WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
9. Acute bleeds
• Any sign or symptom
• PLEASE SUSPECT and TREAT IMMEDIATELY
• If in doubt, again TREAT IMMEDIATELY
• Patients usually recognize early symptoms of bleeding
even before the manifestation of physical signs
• This is often described as “aura”
Srivastava et al, WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
10. Joint bleed - definition
An unusual sensation ‘aura’ in the joint
+
Any of the following:
• (a) increasing swelling or warmth of the skin over the joint;
• (b) increasing pain
• (c) progressive loss of range of motion or difficulty in using
the limb as compared with baseline.
Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van Den Berg HM, Srivastava A, J Thromb Haemost 2014; 12:1935–9
11. Target joint - definition
• Three or more spontaneous bleeds into a single joint within
a consecutive 6-month period.
• What is NOT a target joint?
Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van Den Berg HM, Srivastava A, J Thromb Haemost 2014; 12:1935–9
12. Muscle bleed - Definition
• Bleeding into a muscle, determined clinically and/or by
imaging studies, generally associated with pain and/or
swelling and loss of movement over baseline.
25/02/2022 12
Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van Den Berg HM, Srivastava A, J Thromb Haemost 2014; 12:1935–9
13. Acute bleeds
• Even before developing any sign or symptom
• If patient with haemophilia describes “aura” please
TREAT IMMEDIATELY
Srivastava et al, WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
14. First aid measures: PRICE
• Protection (splint),
• Rest,
• Ice,
• Compression,
• Elevation
• DDAVP in mild – moderate Hemophilia A
Timely (within 2 hrs) & adequate clotting factor
concentrates critical to outcome
Srivastava et al, WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
15. Pain
Treating the cause: With clotting factor brings significant
pain relief than above agents
ASA
NSAID
Paracetamol/acetaminophen
Paracetamol/acetaminophen
+
Codeine/tramadol
Selective COX-2 inhibitor
A. Srivastava et al., WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
16. Emergency
• In severe bleeding episodes that are potentially life-
threatening, especially in:
• Head
• Neck
• Chest
• GI tract
Treatment with factor should be initiated immediately, even
without any diagnostic assessment
Srivastava et al, WFH Guidelines. Guidelines for the management of hemophilia. Haemophilia (2013), 19, e1–e47
17. Haemophilia India :
Current scenario
*Kar A, Phadnis S, Dharmarajan S & Nakade J. Indian J Med Res 140, July 2014, pp 19-31
$ As per data communicated by Dr Cecil Ross from Hemophilia Federation (India)
# World Federation of Hemophilia Report on the annual global survey 2014. Available from URL http://www1.wfh.org/publications/files/pdf-1627.pdf contents last accessed on 10 Dec 2015.
Estimated PWH in India:
~75,000*/1.2 billion
Diagnosis rate: ~23%
Diagnosed PWH: ~17,000
FVIII/IX
~50%
FFP/Cryo
~50%$
PWH – Persons with Hemophilia
Under diagnosis: Tip of iceberg
has been diagnosed till date
Pd – CFC
98% #
Recombinant
CFC: 2% #
Haemophilia India :
Challenges
Treatment for PWH
18. PWH – Persons with Hemophilia
>50% of diagnosed PWH are
yet treated with blood products
– risk of infection –
HIV/HBV/HCV
Haemophilia India :
Current scenario
Haemophilia India :
Challenges
*Kar A, Phadnis S, Dharmarajan S & Nakade J. Indian J Med Res 140, July 2014, pp 19-31
$ As per data communicated by Dr Cecil Ross from Hemophilia Federation (India)
# World Federation of Hemophilia Report on the annual global survey 2014. Available from URL http://www1.wfh.org/publications/files/pdf-1627.pdf contents last accessed on 10 Dec 2015.
Estimated PWH in India:
~75,000*/1.2 billion
Diagnosis rate: ~23%
Diagnosed PWH: ~17,000
FVIII/IX
~50%
FFP/Cryo
~50%$
Pd – CFC
98% #
Recombinant
CFC: 2% #
Treatment for PWH
19. PWH – Persons with Hemophilia
Plasma derived CFC - Limited
supply / availability due to the
source – pooled plasma
Haemophilia India :
Current scenario
Haemophilia India :
Challenges
*Kar A, Phadnis S, Dharmarajan S & Nakade J. Indian J Med Res 140, July 2014, pp 19-31
$ As per data communicated by Dr Cecil Ross from Hemophilia Federation (India)
# World Federation of Hemophilia Report on the annual global survey 2014. Available from URL http://www1.wfh.org/publications/files/pdf-1627.pdf contents last accessed on 10 Dec 2015.
Estimated PWH in India:
~75,000*/1.2 billion
Diagnosis rate: ~23%
Diagnosed PWH: ~17,000
FVIII/IX
~50%
FFP/Cryo
~50%$
Pd – CFC
98% #
Recombinant
CFC: 2% #
Treatment for PWH
20. Disabled (94%) Free from Disability
Percentage of PWH with disability
PWH (n=148)
Kar A, Mirkazemi R, Singh P, Potnis-Lele M, Lohade S, Lalwani A, Saha AS. Disability in Indian patients with haemophilia.
Haemophilia. 2007
