Screening Programmes
Sickle Cell and Thalassaemia
Tests for Dads
You are invited for a screening test
for sickle cell and thalassaemia
This could give important information
about the health of your baby.
This leaflet explains the test and what it
may show.
Tests for sickle cell and
thalassaemia during pregnancy
This leaflet is about your invitation to have a screening test for
haemoglobin disorders such as sickle cell and thalassaemia.
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The test gives information which may be important
for the health of your unborn baby and any future
children.
We explain about the test, why we offer it, what it might
show and the choices you can make.
If you want the test, it is important to have it as soon
as possible – the earlier in your partner’s pregnancy the
better. Please make your appointment as soon as you can
or, if you have been offered one, confirm you will attend.
Why have I been invited for a test?
Test results for the mother of your baby show she carries a
gene for an unusual type of haemoglobin. Haemoglobin
is the substance in our blood that carries oxygen and iron
around our bodies. We now need to know if you also carry
a gene for an unusual type of haemoglobin.
If both mum and dad are carriers of a gene for unusual
haemoglobin, there is a 1 in 4 (25%) chance that your
baby could inherit a haemoglobin disorder such as sickle
cell disease or thalassaemia major. These are serious lifelong health conditions.
Therefore we offer the
test to both mum and
dad to see if there is
any risk for your baby.
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What does the test involve?
It is a simple blood test which takes a few minutes. You
should get your result within three to five days.
What might the test show?
The test will show whether you carry a gene for an unusual
type of haemoglobin – for example, sickle cell, thalassaemia or
haemoglobin D. If you carry a gene, you are a carrier, which is
sometimes called having a ‘trait’.
For most people, the test will show they are not a carrier.
Screening is not just for women.
Know the facts, know the choices.
Tim Campbell, winner BBC The Apprentice
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What does it mean if I am a carrier?
To explain this, we must talk about genes.
Genes work in pairs. For each thing you inherit (for example,
the colour of your skin, hair and eyes) you get one gene from
your mother and one gene from your father.
People who are carriers have inherited one unusual gene
for haemoglobin from one parent. Because they have
also inherited one usual gene for haemoglobin from the
other parent, they will never have a haemoglobin disorder
themselves.
But, if a carrier has a baby with another person who is
also a carrier, their baby has a 1 in 4 (25%) chance of
having a haemoglobin disorder such as sickle cell disease or
thalassaemia major.
Like me, you can take a simple blood
test which will tell you whether you
carry the sickle cell or thalassaemia
gene. Getting screened for these
disorders will reveal important
genetic information for you and
your family.
Lenny Henry, comedian
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If we are both carriers, what are the risks for
our baby?
There are three possibilities.
• Your baby could inherit a haemoglobin disorder such as
sickle cell disease or thalassaemia major – 1 in 4 (25%)
chance.
• Your baby could be a carrier – 1 in 2 (50%) chance.
• Your baby could be completely unaffected – neither having
a condition nor being a carrier – 1 in 4 (25%) chance.
These possibilities are shown in the diagram below. The chances
are the same in every pregnancy you have with this partner.
In the diagram below, the parents are both carriers. They are
drawn in two colours to show that they have one usual gene
(white) and one unusual gene (blue).
Usual
gene
Usual
gene
Unusual
gene
Unusual
gene
Unusual
genes only
Usual gene
and unusual gene
Usual gene
and unusual gene
Usual
genes only
Child has a
haemoglobin disorder
Child is a carrier
Child is a carrier
Child is not affected
(One in four chance)
(One in two chance)
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(One in four chance)
What happens next if we are both carriers?
We will offer you an appointment where a trained professional
will explain more about being a carrier and about what
condition your child could inherit. We will also offer a test
for your baby called ’prenatal diagnosis’ (PND). It will show
whether your baby has inherited any genes for unusual
haemoglobin.
What if we don’t want any further tests during
pregnancy?
Parents can choose whether to have prenatal diagnosis or
not. If not, the next test we will offer is when your baby is
born. This will show if your baby has inherited a haemoglobin
disorder. The test is done by taking a few drops of blood from
your baby’s heel, when they are five to eight days old. This test
is called newborn blood spot screening.
I believe the father thinks ‘it’s come
from the mother’ so in order to
break that perception, it’s important
for both parents to be at a screening
session. I said, ‘we have an
appointment, are we going?’
Hannah Hunter is a sickle cell carrier
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If I am a carrier, will my own health be affected?
If the test shows you are a carrier, you should not worry about
your own health. You do not have an illness and will never
develop sickle cell disease or thalassaemia major. The screening
programme has a set of leaflets for each type of carrier
identified by screening where you can get more information
about being a carrier. You can view these at: sct.screening.nhs.
uk/leaflets
I’ve got a lot of nephews and
nieces now who are looking to
start families and they are aware of
the screening programme and are
using that. It’s not just the women
that are going, it’s both men and
women, because obviously they
both can have the trait.
Raj Singh has beta thalassaemia major
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What are my chances of being a carrier?
This depends on where in the world your family comes
from. Being a carrier gives some protection against malaria
in childhood. So, you are more likely to be a carrier if your
family comes from a part of the world where malaria is or
was common such as Africa, the Caribbean, Mediterranean
countries, India, China and the Far East. However, people
from any ethnic group can be a carrier. If you are a carrier, you
should still take all the normal protection against malaria when
you travel.
What are haemoglobin disorders?
There is a family of conditions that affect haemoglobin – the
substance in our blood that carries oxygen and iron around
the body.
The two most serious conditions are sickle cell disease and
thalassaemia major. People who have these conditions need
specialist care throughout their lives. You only get these
conditions if you inherit them from both parents. You cannot
catch them and they cannot develop later in life.
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Sickle cell disease
People with sickle cell disease:
• can have episodes of very severe pain;
• can get serious, life-threatening infections;
• need medicines and injections to prevent infections when
they are children and throughout their lives; and
• are usually anaemic (which means they have difficulty
carrying oxygen and iron around the body).
Thalassaemia major
People with thalassaemia major:
• are very anaemic (they have difficulty carrying oxygen and
iron around the body);
• need blood transfusions every four to six weeks throughout
their lives; and
• need injections and medicines throughout their lives.
There are also other, less common, haemoglobin disorders.
Many of these are not as serious.
I’ve been tested and it’s easy to do.
It’s just as important for men as
women because babies inherit the
disorders from both parents.
JB from pop group JLS
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More information
The Screening Programme website contains a wide range of
information for the public. Visit: sct.screening.nhs.uk
It can also be accessed via: www.sickleandthal.org
Below are some leaflets you might find helpful. You can find
these at: sct.screening.nhs/leaflets
You can order hard copies of the leaflets from Harlow Printing
Ltd at: [email protected]
Some publications are available in other formats and in
translation. For further details visit: sct.screening.nhs.uk/
languages
Screening tests for you and your baby. This booklet
describes all the screening tests offered in pregnancy and to
newborn babies. It is also available in a range of languages and
formats. Ask your health professional for a copy or see:
sct.screening.nhs.uk/languages
Carrier leaflets
A series of leaflets for adults identified as carriers
Fact sheets about sickle cell and thalassaemia. These are
simple, easy to read leaflets about the conditions and screening
Real-life stories – people talking about being a carrier or
having the conditions. Visit: sct.screening.nhs.uk/stories
There are details of people’s experiences of screening at www.
healthtalkonline.org (search for pregnancy and children,
then screening for sickle cell and beta thalassaemia).
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Relevant organisations
Sickle Cell Society
This is a voluntary organisation offering information and support
to do with sickle cell. Website: www.sicklecellsociety.org
UK Thalassaemia Society
This is a voluntary organisation offering information and
support to do with thalassaemia. Website: www.ukts.org
NHS Sickle Cell and Thalassaemia Screening Programme
A linked antenatal and newborn screening programme for sickle
cell and thalassaemia. Website: sct.screening.nhs.uk/
Health care professionals can order print copies of this leaflet
from Harlow Printing Ltd. Telephone: 0191 496 9735
or email: [email protected]
Your local service is at:
© NHS Sickle Cell and Thalassaemia Screening Programme 2012
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