Deatils about haemophilia in children

1. Haemophilia
in children
Dr. Manori Gamage (MBBS, DCH, MD, MRCPCH)
Senior Lecturer in paediatrics
Faculty of Medical Sciences
University Of Sri Jayewardenepura

2.  Commonest congenital coagulation disorder.
 Inherited as an x linked recessive disorder..
 Affects 1:10,000 males worldwide.
 Factor VIII deficiency causes - Haemophilia A
(commoner type)
Factor IX deficiency causes – Haemophilia B

3.  1/3 of cases develop Haemophilia without a previous family history.
 The phenotype of the illness remains constant within a family.
So all affected members will have either serious or mild disease.

4. How to categorize the severity
It is determined by the level of circulating factor VIII (or IX)
level.
Normal factor level = 50 – 150 IU/dl
When <1 IU/dl – severe
1-5 IU/dl – moderate
5 – 40 IU/dl - mild

5. Prominent features of Haemophilia in
children
Severe form
 Recurrent and spontaneous joint bleeds
Mainly affects knee, elbow or ankle.
But any joint could affect.

6. Neonatal period
1. ICH at birth
2. Bleeding from umbilical cord
Infancy
1. Bruises
2. Joint bleeding with crawling

7.  Moderate form patients –
Bleeding following falls and trauma during childhood.
 Mild form patients –
Rarely develop spontaneous joint bleeds and will bleed
following severe trauma or surgery.

8. Diagnosis
History
1. Family history
2. Past history
Investigations – clotting studies
 PT – normal
 APTT – prolonged, when APTT prolonged, do correction studies.
If corrected with factor IX – Haemophilia B
If corrected with factor VIII – Haemophilia A
Factor levels - to assess the severity

9. Treatment
 Replacement of clotting factors
Treatment with recombinant factor VIII or IX depending on the type
Replacement is done,
a. As a prophylactic measure
b. To prevent bleeding from already bleeding joint

10.  Before 1992 clotting factors were plasma derived but since 1992
recombinant factor VIII and factor IX is used during replacement
therapy
 The dose of Factor concentrate necessary is decided on
- the weight of the child
- severity of the illness
- nature of the bleeding circumstance

11. Factor VIII replacement therapy
1 unit of factor VIII/kg will the circulating factor level by
2%
(So, for a 100% correction need 50u/kg x weight of the
child )
Factor IX replacement therapy
1 unit of factor IX /Kg will increase the circulating factor
level by 1

12.  Prophylactic factor replacement therapy
In severe Haemophilia, there is an increasing tendency to bleed into
joints spontaneously and is known to cause irreversible damage to
joint cartilage.
To prevent this, factor VIII or (IX) is given prophylactically.
Prophylactic regimes vary according to the country and treatment
centre.

13. Prophylactic treatment has shown to,
 Reduce joint bleeds
 Preserve musculoskeletal function
 Reduce the risk of ICHs
But there is an increased the risk of developing inhibitors.

14. Prophylactic therapy is given as
Primary prophylaxis : - commence on regular replacement
therapy before developing severe joint bleeds. This is for
severe form.
2ry prophylaxis – Commence on continuous regular
replacement therapy after developing more than 2 major
bleeds in to large joints
3ry prophylaxis – continuous regular replacement therapy
after detecting damaged t joints during examination and
investigations

15. Other treatment modalities
In mild Haemophilia A patients
 DDAVP – it increases the release of factor VIII

16. DDAVP – cheap
No risk of infection transmission
Dose
0.3 micrograms/1gram
As it is known to cause hyponatraemia. It is not recommend in children
<2 years.

17.  Tranexamic acid
• inhibits fibrinolysis
• useful adjuvant therapy specially when bleeding from mucosal
surfaces.
Dose
15 – 20 mg/kg can give up to 6 doses for 24 hours.

18. Things to avoid
 NSAIDs
 IM injections
So,
 For pain paracetamol or COX – 2 inhibitors.
 For immunization – use subcutaneous injections

19. Problems encounter during management
 Most difficult and commonest complication is
development of inhibitors(antibodies) against
infused factor VIII or IX.
 commoner in severe Haemophilia A (14%) than
Haemophilia B (3%).
 inhibitors are measured using Bethesda units. (BU)

20. It’s important to screen periodically for inhibitors.
When found to have inhibitors need to address two
factors.
 Eradicate antibodies (inhibitors)
 Treat bleeds with other bypassing agents.

21. To eradicate antibodies
 Immunosuppressive agents like steroids
will be used.
 And some need more stronger
immunosuppressant.

22. To treat bleeding episodes
need to use bypassing agents
a. Prothrombin complex concentrates (FEIBA)
 It is a plasma derived concentrate of factor II,VII,IX and
X, which are activated in vitro.
 So it has ability to generate thrombin in the absence of
factor VIII.

23. b. Recombinant activated factor VII.
c. Bispecific antibody that mimics factor VIII which
allows binding of factor IX to factor X in the absence of
factor VIII. ( It replaces the function of factor VIII rather
than increasing the factor level )

24. Management of a neonate with a family history of Haemophilia.
a. Antenatal diagnosis if possible .
If not diagnosed during antenatal period it is important to know
the sex of the foetus for better management options .
Better to deliver through LSCS
Avoid vacuum delivery
Take cord blood for investigations
Get USS of brain before discharge
Neonates with positive family history will get diagnosed early than

25.  Further treatment options
1. subcutaneously given molecules which mimic normal
coagulation.
2. gene therapy

26. THANK
YOU