Doc-20240131-Wa0 240131 223819
Doc-20240131-Wa0 240131 223819
Doc-20240131-Wa0 240131 223819
In this article...
● C
auses of haemophilia and how it affects patients
● Current treatments and future developments
● Nurse’s role in supporting people with haemophilia
A
that you can use
on which clotting
as revalidation
evidence. factor is missing dvances in the treatment and and 1980s – is still being felt, highlighted
care of haemophilia have by the revelations of an ongoing public
The hallmark of transformed this rare bleeding inquiry (infectedbloodinquiry.org.uk).
severe haemophilia disorder from a fatal disease Described as “the worst treatment disaster
is recurrent and into a long-term condition, with which in NHS history” (Reed, 2021), it led to more
spontaneous joint people are increasingly living into old age. than 3,000 deaths from hepatitis and HIV
bleeds which, if left However, the legacy of the contaminated in people with blood disorders. The UK
untreated, can cause blood scandal – in which around 5,000 began using recombinant (manufactured)
deformity people with haemophilia and other blood clotting therapies in the late 1990s, guar-
disorders in the UK were infected with anteeing such a tragedy will never happen
Some bleeds, such contaminated blood products in the 1970s again, but it took over 30 years to launch an
as those in the skull independent public inquiry into the
and soft tissue scandal (Bit.ly/THSMHSupport).
around airways or
other internal What is haemophilia?
organs, can be life Haemophilia is a rare bleeding disorder in
threatening which the body does not produce enough
of a protein that helps the blood to clot.
Recombinant There are two main types:
clotting factor and ● Haemophilia A – caused by deficiency
non-factor of the functional plasma clotting
replacement factor VIII;
therapies mean ● Haemophilia B (also known as
more people with Christmas disease, after the first
haemophilia are patient diagnosed) – caused by
living into old age Protests over “the worst treatment disaster deficiency of the functional plasma
ALAMY
Nursing Times [online] October 2021 / Vol 117 Issue 10 34 www.nursingtimes.net
This article is open access
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Clinical Practice
Review
Congenital haemophilia
Most haemophilia is congenital, caused by
an inherited X chromosome genetic muta-
tion that mainly occurs in males, although
female carriers may have mild, or rarely
severe, bleeding symptoms (Bit.ly/NORD-
HemophiliaA). People with haemophilia
usually have a family history of the dis-
order, but around a third of males diag-
nosed have no family history due to a
spontaneous mutation in the female line
that has not been inherited by a male
family member before (Srivastava et al,
2020; Khair, 2019).
Acquired haemophilia in frail, older Society, 2017). There are three levels of ations have only included female carriers),
people can be challenging to manage and severity (phenotypes), defined by the diagnosis will only be made when bleeding
Nursing Times [online] October 2021 / Vol 117 Issue 10 35 www.nursingtimes.net
This article is open access
and can be freely distributed
Clinical Practice
Review
Nursing Times [online] October 2021 / Vol 117 Issue 10 36 www.nursingtimes.net
This article is open access
and can be freely distributed
prophylactic infusions can be given less Tranexamic acid and can result in chronic joint disease,
frequently: This drug helps hold a clot in place once it functional impairment and disability
● Twice a week for haemophilia A; has formed, and is helpful for mouth (Khair, 2019). Bleeding into joints is a par-
● Weekly or fortnightly for bleeds, nosebleeds and heavy menstrua- ticular problem, as it can damage the syn-
haemophilia B. tion (The Haemophilia Society, 2017). ovium (joint lining), cartilage and sur-
The reduced frequency of infusions and Given as a liquid, tablet or mouthwash, it rounding tendons and tissues, leading to
increased levels of factor can decrease the is often used with clotting factor or desm- arthritic pain and reduced joint movement
treatment burden (Khair et al, 2019). Bleeds opressin. and strength (Nacca et al, 2017).
can also be controlled more quickly, often Older people with haemophilia are likely
requiring only a single infusion. “[In] the contaminated to have joint damage, due to limited access
Emicizumab blood scandal around 5,000 to treatment when they were young, and
often require orthopaedic surgery. Prophy-
Emicizumab is a non-factor replacement people with haemophilia laxis and prompt treatment of bleeds means
therapy used for haemophilia A. It is injected and other blood disorders children often now reach skeletal maturity
subcutaneously to prevent or reduce
bleeding episodes, but is not used to treat
in the UK were infected with well-preserved joint function,
although most people with severe haemo-
bleeding (Bit.ly/HaemophiliaNonFactor). with contaminated blood philia still experience joint problems at
The first commercially available product products” some stage. Hanley et al’s (2017) best-prac-
in a new generation of bypassing agents, it tice guidance for managing acute joint
is a monoclonal antibody that works by Complications bleeds and chronic synovitis was published
bridging activated factor IX and X to Haemophilia can have many short- and by the United Kingdom Haemophilia
restore the function of the missing acti- long-term complications; the main ones Centre Doctors’ Organisation.
vated factor VIII needed for effective blood are discussed below.
clotting (Bit.ly/NICEEmicizumab). Infection-related complications
Emicizumab is available in the UK for Inhibitors Improved blood-donor screening in man-
people with severe haemophilia A with The development of antibodies (inhibi- ufacturing plasma-derived products and
and without antibodies. It can revolu- tors) to clotting factor replacement thera- the switch to recombinant clotting factors
tionise care: treatment is a subcutaneous pies is the main complication of contem- has virtually eliminated the risk of transfu-
injection, given once weekly for the first porary care; it occurs in around 14% of sion-transmitted infections in the UK.
four weeks, and then weekly, fortnightly or people with haemophilia A and 2% of those However, there are still patients living
every four weeks in the maintenance phase with haemophilia B (Khair, 2019). Inhibi- with the long-term health effects of trans-
(Khair, 2019). As more people with haemo- tors prevent clotting factor from working, fusion-transmitted viruses and their treat-
philia survive into old age, emicizumab is mainly affecting people with severe hae- ments, and the psychological effect on the
also useful for treating people who mophilia A. families involved is only just being
struggle with repeated venous access or When they arise, inhibitors commonly acknowledged (Bit.ly/THSMHSupport).
who are no longer able to self-infuse, such develop during the first 50 treatment days,
as those in residential care homes who and usually in the first 20 days. This means Life-threatening complications
have congenital haemophilia. that, in people with severe haemophilia A, The most critical life-threatening compli-
In the UK, only a haemophilia compre- inhibitors generally appear in childhood, cations of haemophilia are:
hensive care centre can prescribe emici- while in those with mild-to-moderate ● Bleeding in the skull;
zumab and care is needed when co-infusing forms they tend to develop later in ● Haemorrhages in the soft tissue around
it with other treatments because of poten- life (Bit.ly/HaemophiliaBleeding). Periodic airways or other internal organs.
tial thrombotic side-effects (Khair, 2019). screening for inhibitors should be part of Spontaneous ICH occurs in up to 8% of
haemophilia care; patients also need people with haemophilia, and around 30%
Desmopressin screening before any surgical procedure, of those will die from it (Hegde et al, 2016).
Desmopressin stimulates the release of von including dental work.
Willebrand factor from endothelial cells by Treatment of inhibitors includes: Patient care
acting on the V2 receptor; it is used to: ● Attempting to eradicate the underlying All UK patients diagnosed with haemo-
● Control minor bleeding episodes in antibody by building up immune philia should be registered with a haemo-
people with milder forms of tolerance through regular exposure to philia comprehensive care centre that pro-
haemophilia; high doses of coagulation factor vides core multidisciplinary care from
● Help prevent bleeding associated with (immune tolerance induction); doctors, nurses, physiotherapists, psy-
minor operations, including dentistry ● Treating bleeding episodes with chosocial carers and coagulation labora-
(Haemophilia Society, 2017). infusions of bypassing agents factor tory staff, who liaise with non-haemo-
It is injected subcutaneously but can VIIa or activated prothrombin complex philia specialists – including dentists and
also be delivered intravenously or as a nasal concentrate (Khair, 2019); surgeons – when necessary. People with
spray. Side-effects include hyponatraemia ● Prophylaxis with emicizumab. haemophilia carry a bleeding disorder
(low sodium levels) and seizures; fluid information card and have all aspects of
retention can also occur, and patients are Joint and muscle damage their care coordinated by their specialist
asked to restrict fluids after treatment. Its Damage to muscles and joints caused by haemophilia team, even when care is
use is not recommended for children aged serious or repeated bleeding is a main delivered in other settings (Srivastava et
under two years (Khair, 2019). cause of morbidity in severe haemophilia, al, 2020).
Nursing Times [online] October 2021 / Vol 117 Issue 10 37 www.nursingtimes.net
This article is open access
and can be freely distributed
Clinical Practice
Review
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general population: a systematic review.
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who have severe haemophilia. haemophilia care. Although these are, so 21 June.
Srivastava A et al (2020) WFH Guidelines for the
Patients with haemophilia who are on far, only in trials in adults, they show some Management of Hemophilia, 3rd edition.
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bleeding worse. Nurses caring for patients mutated gene (Bit.ly/HaemophiliaGene).
with haemophilia must refer to the spe- Clinical trials for gene therapy in severe
Are you making the
cialist haemophilia team. haemophilia have been extremely suc-
most of Nursing Times?
Toddlers and young children pre- cessful, and one company has applied to
Nursing Times subscribers have
senting with problems in weight-bearing the European Medicines Agency and US unlimited online access to:
joints can be in severe pain; if a child is dis- Food and Drug Administration for licen-
tressed, screaming and unwilling to use sure for routine clinical use. All this adds ● Over 6,000 double-blind peer
the affected limb, nurses should not up to a brighter outlook for people with reviewed articles, published since
2000
attempt to pull it straight to demonstrate haemophilia; however, those who live for
mobility. Any child with haemophilia pre- longer with the disease will present with ● Clinical zones collating content
senting at the emergency department with new and different challenges and it will be relevant to over 60 clinical specialties
and nursing role
a head injury should be fast-tracked and important to understand how to manage
not go through the usual triage. haemophilia in frail, older people with sig- ● Print-friendly PDFs to download
Children who have severe haemophilia nificant comorbidities. NT ● An innovations hub offering inspiration
may need a central venous access device for service improvements
for prophylactic infusions; this can pose References ● User-friendly online learning on key
Butler RB (2012) Introduction to Bleeding
an infection risk and care may fall under nursing topics
Disorders. National Haemophilia Foundation.
that of the community paediatric team. A Darby SC et al (1995) Mortality before and after ● Self-assessments for selected articles,
history of bruising and bleeds in children HIV infection in the complete UK population of providing bite-size CPD
haemophiliacs. UK Haemophilia Centre Directors’
who have not been diagnosed with haemo- ● Journal club support for selected
Organisation. Nature; 377: 6544, 79-82.
philia – particularly when there is no The Haemophilia Society (2018) Initial Diagnosis: articles, providing participatory CPD
family history – can raise safeguarding Understanding the Experience. THS. ● A personal online portfolio to store
issues; this is a main source of stress for The Haemophilia Society (2017) Understanding revalidation and CPD evidence
Haemophilia. THS.
parents when their child is first diagnosed Hanley J et al (2017) Guidelines for the Go to nursingtimes.net to take
(The Haemophilia Society, 2018). However, management of acute joint bleeds and chronic advantage of these invaluable resources
it is also important to be aware that a synovitis in haemophilia: a United Kingdom
Nursing Times [online] October 2021 / Vol 117 Issue 10 38 www.nursingtimes.net