Download Sickle cell and thalassaemia: a brief introduction

Sickle Cell and Thalassaemia
Sickle cell and thalassaemia:
a brief introduction
This presentation was developed by the
NHS Sickle Cell & Thalassaemia Programme
in collaboration with:
Beverley Smalling
Verna Davis
Shirley Samuel
Patients representatives
and The Sickle Cell Society
Part of Public Health England
PHE gateway number: 2014540
Introduction:
What are sickle cell and thalassaemia?
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Serious conditions
Affect your red blood cells
Inherited from your parents
You cannot ‘catch’ them
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Introduction: What does having sickle cell
or thalassaemia mean?
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Sickle cell and thalassaemia disorders affect
haemoglobin – the part of the blood that
carries oxygen around the body
Oxygen is carried less efficiently around the
body in people with sickle cell and
thalassaemia
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Introduction: What’s the difference
between sickle cell and thalassaemia?
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Sickle cell affects quality of haemoglobin
 Red blood cells can take on sickle shape when they
give up oxygen in small blood vessels
 They become stiff and can’t circulate properly
 They can also become stuck in small blood vessels and
cause blockages
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Thalassaemia affects the quantity of haemoglobin
“normal” red
blood cell
sickled red
blood cell
 There are not enough red blood cells to get oxygen
around the body
thalassaemia
red blood cell
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Understanding the background:
Genetics
Sickle cell and thalassaemia are genetic diseases
 Genes are the code which pass information to us from our parents
 They are what makes us look more like our mother or father
 Determining whether we are tall or short, black or white
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Understanding the background: How
sickle cell and thalassaemia are inherited
Carriers have the
disorder gene.
They usually have
no symptoms and
may not even
know they carry
the gene
If only one
parent were a
carrier: The child
cannot inherit the
disorder. But they
could still be a
carrier
If one parent has a
disorder and the
other is a carrier the
child is more likely
to inherit the
disorder
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Understanding the background:
How genes control haemoglobin
A+A=
From one
parent
From one
parent
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Healthy red
blood cells
=
Healthy
person
Understanding the background:
How genes control haemoglobin
A+S=
From one
parent
From one
parent
=
Healthy red blood
cells (may be a few
sickled cells)
Sickle cell
carrier
This person is
healthy, but can pass
the unusual gene on
to their children
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Understanding the background:
How genes control haemoglobin
S+S=
From one
parent
=
From one
parent
Sickle red
blood cells
This person will
have the disease
for their whole life
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Person has
sickle cell
disease
Understanding the background: Genes
control your haemoglobin
Thalassaemia is
inherited in exactly the
same way
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
The big picture: Where and
why we see these diseases
As genetic disorders, sickle cell and
thalassaemia can affect anyone, but they
are more common among specific black
and minority ethnic groups
It’s not about
race!
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
The big picture: Where are sickle cell and
related diseases most prevalent?
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
The big picture:
Who is most at risk?
Type of carrier
Ethnic Group
Population Frequency
Sickle Cell Carrier
(Hb AS)
West Africans
African-Caribbean
Asians
1:5
1 : 8 to 1:10
1:100
ßeta Thalassaemia
Carrier (ß)
Mediterranean
Asians
1:7 to 1:20
1:10 to 1:30
Hb AD
Indians
1:50 to 1:100
(related ‘haemoglobin
variant’)
(Also seen in Pakistani
population)
HbAE
Bangladeshi
(related ‘haemoglobin
variant’)
(Also seen in Indian and
Pakistani populations)
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
1:25 to 1:30
Statistics source: Adapted from the SMAC Report 1993
The big picture:
What does this mean in England?
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Around 450,000 people carry an unusual
gene for sickle cell or thalassaemia
Around 13,000 have sickle cell disease
Around 700 have beta thalassaemia major
Worldwide, sickle cell and thalassaemia are
the most common ‘single gene’ disorders
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
A deeper look: understanding
the diseases
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
A deeper look: Sickle Cell
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Sickle cell affects quality of haemoglobin
Red blood cells can take on sickle shape when they give up oxygen in
small blood vessels
Cells become stiff and can’t circulate properly
Cells can then become stuck in small blood vessels and cause problems
including chronic pain
Normal red blood cells move freely in
the circulation for 120 days
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Sickled red blood cells can get stuck and
usually only circulate for 20 – 30 days
A deeper look: Sickle cell –
the common problems
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More susceptible to infections including
meningitis and those affecting the
chest, bones or blood
Anaemia – body has difficulty in
handling iron
Pain (could be all over the body)
Strokes
Damage to joints especially hips and
shoulders
Possible early death (if untreated)
The excess of broken down red blood
cells can also result in jaundice
May need treatment for other
complications such as diabetes or
infertility
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
eyes
chest
kidneys
brain
heart
bones
A deeper look:
Treatments for Sickle Cell
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Penicillin (to prevent infections)
Folic Acid (to help with producing red blood cells)
Immunisation against infections
For some, bone marrow transplants are an option
Also important is:
 Education of patient and carers about the condition
 Good diet
 Guarding against common complications
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
A deeper look: Beta Thalassaemia Major
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Thalassaemia affects the quantity of red blood cells
Not enough oxygen gets around the body
thalassaemic
red blood cells
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
“normal”
red blood cells
A deeper look: What problems do
‘Thalassaemics’ commonly experience?
People with
thalassaemia need
a blood transfusion
every 3 or 4 weeks
for life
Common problems
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Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Poor feeding in babies
Pale
Irritable
Large spleen
May have heart failure if not
treated
Untreated children will die young
A deeper look:
Treatments for Thalassaemia
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After transfusions too much iron
builds up in body
Need treatment every day to remove
it – by injection or pills
Can be cured by bone marrow
transplant in some patients
Also important is:
 Education of patient and carers about
the condition
 Good diet
 Guarding against common
complications
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Facing the challenge: Living
with sickle or thalassaemia
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Facing the challenge: Living with sickle
cell or thalassaemia
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Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Finding the right care and support
Dealing with school life
Finding the right housing
Facing stigma and lack of
understanding
Getting employer to understand
and support
Frustration of being ‘wrapped in
cotton wool’ when you are well
Informed choice: the importance
of screening
These days,
screening requires
only a simple blood
test which can be
carried out at any
time
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Informed choice:
Why is screening important?
In newborns:
 It identifies those with the disease
early to ensure they receive the
correct treatment
During pregnancy:
 Identifies whether parents are
carriers and the risk of their child
having the disease
 If screened early, parents have
time to prepare and make a fully
informed choice
At other times:
 Screening allows men and women
to know their status and therefore
calculate the risks
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Informed choice:
Early is essential
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For most people screening
happens after conception
It is crucial that mums and dads
get tested as early as possible
8-10 weeks
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Will robably put your mind at rest
Will provide time for all stages of
screening – getting father and
even unborn child tested if
requested
Gives time to consider options
and receive counselling
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Informed choice: Challenging stigma
If one person is a carrier it is likely
that others in the family will be too
 Carriers need to decide about
telling immediate and wider family
and informing them about
screening
 In some communities, this may
raise complex ethical, cultural and
religious issues eg arranged
marriages, cousin marriages,
termination of pregnancy
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
Facing the challenge:
Common myths and taboos
MYTH: Screening
is for women
FACT: It is just as
important for men
to be screened
MYTH: People with
conditions will die young
FACT: Treatments are
improving quickly – people
can live a long life if they
receive the right treatment
MYTH: You can catch
the conditions
FACT: You only get
them by inheriting them
from your parents
Sickle cell and thalassaemia: a brief introduction
PHE gateway number: 2014540
MYTH: Sickle Cell and
thalassaemia are ‘black
issues’
FACT: Because they are
genetic, these diseases
can occur in any
population
MYTH: I’m well so I
can’t be a carrier
FACT: You can’t tell
unless you have a
blood test