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Contents

Introduction
Types of Haemophilia
Genetic aspect of disease
History
Statistics
Results
Discussion
Symptoms and Complications
Treatment
Conclusion
Reference



Introduction
Recessive X-linked disorder

Hereditary genetic blood disorder

impairs the blood clotting mechanism
when blood vessel is injured

bleeding is prolonged!!!

What is haemophilia?
Types of Haemophilia
1. Haemophilia A
classic haemophilia
most common (90%)
deficiency of clotting factor 8

2. Haemophilia B
Christmas Haemophilia
deficiency of clotting factor 9

3. Haemophilia C
AUTOSOMAL (not X-LINKED)
deficiency of clotting factor 11
Genetic aspect of Haemophilia
It is X-Linked disorder hence MALES
exhibit symptoms!!
Explained by
Females have 2 copies of X-chromosome
Males have only 1 copy

Female
carrier, but not affected
other allele produces clotting factors

Males
Y chromosome
NO genes to produce clotting factors
AFFECTED!!


Carrier Mother
50% chance son affected
daughter carrier

Mother Affected
100% chance son affected

Affected father &
Mother
100% pass to daughter/ sons

History
Prominent in European Royalty
the Royal Disease
Queen Victoria passed the
mutation to her son

Via several daughters passed it was passed to
various royals including the royal families of
Spain, Germany and Russia

Descendants of Queen Victoria suffered from
haemophilia.
Statistics
Males with haemophilia A or B registered on the UKHCDO
nationwide database during 1977-1998

Discussion
There were 6018 males with
haemophilia A or B registered on the
UKHCDO nationwide database during
1977-1998

81% (4874) had haemophilia A
19% (1144) had haemophilia B


Among people with severe haemophilia,
less people were affected with
haemophilia B compared to haemophilia A

Similarly among people with moderate
and mild haemophilia, less people were
affected with haemophilia B compared to
haemophilia A


Among the 3222 people with severe
haemphilia, 18.9 % (609) had died by
the end of the follow up period,

Whereas 12% (177) of people with
moderate haemophilia and 13.5 %
(178) of people with mild haemophilia
died.

The death rate in people with
moderate and mild haemophilia did
not differ significantly from each
other.

More interesting
Statistics!!!
World Federation of Haemophilia (WHF)
400,000 people are affected

Every year in the US
400 babies born with this condition

Haemophilia A
1/5000 males births

Haemophilia B
1/ 30,000 male births


The main clinical feature
oLonger healing time
o Brusing

Internal Bleeding into joints/ muscles
after surgery/ trauma
Joint damage

Menorrhagia heavy menstrual cycles

Intracranial Haemorrhage

Infections via infected blood transfusions
Symptoms & Complications
Treatment
NO CURE for Haemophilia
Controlled:

Regular infusions of clotting factor
eg. Clotting factor 8 haemophilia A
Clotting factor 9 haemophilia B

Recombinant Clotting factors
+ high purity & safety

- expensive & not available to developing world
$300,000 per year



Alternative Treatment
1. Exercise
-help strengthen & increase flexibility
joints / muscles

2. Herbs
- may strengthen blood vessels



Conclusion
the incidence of Haemophilia A is far
greater than Haemophilia B within the
population.

the death rate of the severe form of both
haemophilia A and B is higher compared to the
moderate/mild form of the condition.

Future studies should be working towards
achieving a more effective treatment protocol
in order to reduce the death rate from the
severe form of the disease.