Screening for sickle cell and thalassaemia disorders

During or shortly after your first midwife visit, you'll be offered a test for sickle cell and thalassaemia disorders. These conditions are sometimes referred to as haemoglobinopathies.

A blood test is used to screen for these conditions.

Why will I be screened for these conditions?

Sickle cell and thalassaemia are serious, inherited blood disorders that are passed on from parents to children through altered haemoglobin genes. They affect haemoglobin, a part of the blood that carries oxygen around the body.

People who have these conditions will need specialist care throughout their lives.

Sickle cell disorder

People with certain types of sickle cell disorder:

can experience attacks of very severe pain
may have serious, life-threatening infections
are usually anaemic (which means that their blood has difficulty carrying oxygen)
will need medicines and injections when they are children, and throughout the rest of their lives, to stop them from getting infections

More about sickle cell disorder

Thalassaemia

People with certain types of thalassaemia:

are very anaemic
need blood transfusions every 4 to 6 weeks
need injections and medicines throughout their lives

Gene carriers

People only have these disorders if they inherit 2 altered haemoglobin genes – one from their mother and one from their father. People who inherit just one altered gene are known as 'carriers'.

The test aims to identify carriers of these disorders. Carriers are healthy and don't have either sickle cell or thalassaemia. If a carrier has a baby with another carrier, or someone who has one of the disorders, there is a chance that their baby could have one of the disorders or be a carrier.

Diagnostic tests

If your screening tests show a 'higher chance' result for sickle cell disorder, thalassaemia or Down's syndrome, you'll be offered further diagnostic tests to confirm if your baby has the condition. You'll also be offered these tests in some other circumstances.

These tests aren't completely safe and won't be offered to everybody.

Who's more at risk?

People who inherit 2 altered haemoglobin genes can go on to develop sickle cell disorder or thalassaemia.

You're more likely to carry the altered genes if your ancestors came from places where malaria has been common, including:

Africa
South, East and South East Asia
the Caribbean
the Middle East
South America
the Mediterranean

Being a carrier can help protect against malaria.

People from Poland may be affected because of migration to Poland from areas where malaria was common.

Family Origin Questionnaire

The professional taking care of you will ask you questions to find out whether you or your baby’s father have a chance of carrying genes for these conditions. This is known as the Family Origin Questionnaire.

These questions aim to find out where your immediate family and your ancestors came from so they can see if you have a higher chance of carrying the genes.

Please tell your midwife if you and your partner are related by blood as this is important. If you and your partner have inherited genes from a shared relative it's more likely that both of you are carriers than if you were not related.

Why might your baby's father be invited for a test?

Babies can only inherit sickle cell or thalassaemia disorders if both parents are carriers. So if you're a carrier, it is important to find out if your baby's father is also a carrier.

If he's not available or does not want to have the test, you may be offered another test to find out if your baby has a sickle cell or thalassaemia disorder.

What if your baby's father is also a carrier?

If you and your baby's father both carry the gene for sickle cell, thalassaemia or another blood disorder, there is usually a:

25% (1 in 4) chance that your baby will not have a disorder
50% (2 in 4) chance that your baby will be a healthy carrier
25% (1 in 4) chance that your baby will have a disorder.

Assisted pregnancy

An assisted pregnancy is where eggs and sperm are brought together in a controlled way after being donated by someone else.

If you've an assisted pregnancy your screening result can be affected if the donor is a possible carrier.

Please give the staff as much information as you can so that they can give you the most accurate screening results possible.

Blood condition leaflets for adults

NHS Health Scotland produce leaflets to support parents who've had a blood condition detected through screening. These leaflets are about the blood conditions sickle cell disease and thalassaemia.

These leaflets are available in English and other languages. They aren't available in print.

Blood screening test results information for adults