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Inherited bleeding disorders
are rare and complicated conditions. There are several types
of haemophilia, of which the most common is haemophilia A (factor
VIII deficiency) with an incidence of between 1:5,000 and 1:10,000
males. Haemophilia B (factor IX deficiency) is less common,
with an incidence of between 1:35,000 and 1:50,000 males. von
Willebrands disease (von Willebrand factor deficiency) is a
more common but generally milder bleeding disorder that affects
at least 1 in a 1,000 people (both males and females). Other
types of inherited bleeding disorders are all usually very rare
- but are increasingly common in various ethnic groups - and
include deficiencies of other clotting factors (factor X, factor
XI, factor V etc) and inherited platelet disorders. |
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This specification is written
at a time when haemophilia care is changing radically in response
to the introduction of new technologies. Recombinant factor
VIII and factor IX are already being administered to children
with haemophilia and it is likely that - as in other developed
countries - recombinant coagulation factor concentrates will
be made available to all patients with haemophilia within the
foreseeable future. In the longer term, gene therapy trials
are already underway and there are hopes that this will be available
by the end of the decade. |
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Effective management of these conditions
is particularly complex and involves the administration of
comprehensive care by a team of diverse specialists and health
care professionals.
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Haemophilia affects the whole
of the family, both medically and psychosocially. Furthermore,
women who are carriers of haemophilia can often have significant
clinical problems themselves. For these reasons, comprehensive
care is not only directed at the patient but to the family as
a whole. |
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During the late 1970s and early
1980s, the majority of regularly treated patients with haemophilia
were infected with either HIV and/or hepatitis. This has led
to profound medical and psychosocial problems and makes the
delivery of future clinical care a particularly sensitive and
important issue for all patients and their families. |
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Although the delivery of haemophilia
care is expensive, the lives of patients and their families
can be transformed by high quality care. Effective prophylaxis
and treatment prevents disability - and a need for orthopaedic
procedures - later in life. A child born today with severe haemophilia
can in effect look forward to a normal life expectancy. |
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There is evidence
that the delivery of clinical care across the country needs
to be standardised and that there needs to be greater consistency
in funding allocations for haemophilia treatment across the
regions. |
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There is therefore
a requirement for a uniform national service specification which
sets out the standards of care for patients with inherited bleeding
disorders. In turn, this should assure that in the future all
patients have equitable access to an adequate and appropriate
range of clinical and laboratory services. In time, it is hoped
that this service specification will evolve into a formal national
service framework, in keeping with government initiatives to
establish service frameworks for specialised disorders. |