Guidance

Information and choices for women and couples at risk of having a baby with thalassaemia major

Updated 12 January 2021

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This publication is available at https://www.gov.uk/government/publications/baby-at-risk-of-having-thalassaemia-description-in-brief/information-and-choices-for-women-and-couples-at-risk-of-having-a-child-with-thalassaemia-major

Public Health England (PHE) created this information on behalf of the NHS. In this information, the word ‘we’ refers to the NHS service that provides screening.

Who this information is for

You should read this information because the result of your antenatal screening test for sickle cell and thalassaemia (SCT) shows you are at risk of having a baby with thalassaemia major.

This is because your blood test showed that:

  • you and your baby’s biological father are both carriers, or
  • you are a carrier and we do not have test results for your baby’s biological father

This information helps you and your health professional talk through the next stages of your care during this pregnancy. It should support, but not replace, any discussions you have.

This information explains:

  • what thalassaemia major is
  • the chances of your baby being born with thalassaemia major
  • possible follow-up tests
  • choices available to you

Thalassaemia major

Thalassaemia major affects the amount of haemoglobin in red blood cells that the body produces. It is inherited from a person’s biological parents.

Thalassaemia major is most common in people with a Pakistani, Cypriot, Italian, Greek, Indian, Bangladeshi, Chinese or other South East Asian family background. About 20 babies are born with thalassaemia major every year in England.

People with thalassaemia major cannot make enough haemoglobin. This is a serious and lifelong condition, but long-term treatment can help manage many of the symptoms. People with thalassaemia major can lead long, active and fulfilling lives if they manage their condition well and have the right care and support.

There are different types of thalassaemia major. The most common type is beta thalassaemia major. Babies can only inherit beta thalassaemia major if both biological parents are beta thalassaemia carriers.

If one parent is a beta thalassaemia carrier, and the other is a carrier of another type of haemoglobin, such as haemoglobin E or haemoglobin Lepore, the baby could inherit a different type of thalassaemia major.

Symptoms

The main symptoms of thalassaemia major are:

  • life-threatening anaemia due to the low level of haemoglobin in the red blood cells
  • shortness of breath
  • pale skin
  • yellowing of the skin and eyes (jaundice)

Other symptoms include delayed growth, reduced fertility, weak bones (osteoporosis) and gallstones.

Treatment and longer-term health

Treatment aims to correct the anaemia caused by a lack of haemoglobin in the red blood cells.

People with thalassaemia major need blood transfusions every 3 to 5 weeks throughout their life. Regular blood transfusions cause a build-up (or overload) of iron in the body. Medicine to remove this extra iron is needed throughout a person’s life. This is called iron chelation therapy.

It is important to treat any complications that occur due to anaemia or iron overload, such as delayed growth, heart or bone conditions.

The only cure for thalassaemia major is a bone marrow (or stem cell) transplant. This is a complicated procedure which is only suitable for people with thalassaemia major who have a matching donor.

Causes

Thalassaemia major is inherited from genes passed on by both biological parents. It is not a result of anything you have or have not done.

If both biological parents are carriers of beta thalassaemia their baby can inherit the beta thalassaemia gene from both of them. This is the most common and serious thalassaemia major condition.

There are different types of thalassaemia major. Babies can inherit a different haemoglobin condition if one parent is a beta thalassaemia carrier and the other parent carriers a different type of thalassaemia gene or unusual haemoglobin gene. Your health professional can discuss this with you, so that you understand exactly what condition your baby could inherit, and how serious it could be.

The chances of your baby inheriting thalassaemia major

If you and your baby’s biological father are both carriers then there is a 1 in 4 (25%) chance your baby could inherit thalassaemia major. There is a 2 in 4 (50%) chance your baby will be a carrier, and a 1 in 4 (25%) chance your baby will have the usual haemoglobin A. These chances are the same in every pregnancy when both biological parents are carriers.

The diagram below shows how genetic inheritance works. Both parents in this diagram are carriers. They are drawn in 2 colours to show they have one usual haemoglobin gene (green) and one unusual gene (blue).

Inheritance diagram when both parents are carriers of an unusual haemoglobin gene, showing there is a 1 in 4 chance of the baby inheriting a condition, a 2 in 4 chance of them being a carrier and a 1 in 4 chance they will have normal haemoglobin.

There is a 1 in 4 chance of this baby inheriting the condition, a 2 in 4 chance of them being a carrier and a 1 in 4 chance they will not have the condition.

Follow-up tests

You can choose to have a test to find out for sure if your unborn baby has inherited thalassaemia major. This is called prenatal diagnosis (PND). It is your decision whether to have this test or not.

All babies are offered the newborn blood spot test for sickle cell disease whether a PND has been carried out or not. This test may also identify thalassaemia major. The test is offered when the baby is 5 days old and results received before the baby is 28 days old.

If you decide to have PND

You will be offered either a chorionic villus sampling (CVS) or amniocentesis diagnostic test.

CVS tests are usually done between 11 and 14 weeks of pregnancy but can be done later.

Amniocentesis tests are usually done between 15 and 20 weeks of pregnancy.

PND test results

There are 3 possible results from PND. It can show that your baby:

  • has inherited thalassaemia major (1 in 4 or 25% chance)
  • is a carrier (2 in 4 or 50% chance)
  • has usual haemoglobin A (1 in 4 or 25% chance)

In rare cases the screening laboratory cannot give a result. If this happens, you will be contacted and offered a repeat PND test.

Next steps and choices

If the result shows that your baby has normal haemoglobin or is a carrier, then your pregnancy care will continue as usual.

If a PND test shows that your baby has inherited thalassaemia major, your healthcare professional will talk to you and offer support. You should also have the chance to talk to a specialist.

You may choose to:

  • continue with your pregnancy
  • end your pregnancy (have a termination)

If you decide to continue with the pregnancy the specialist team will:

  • help plan your care and the birth of your baby
  • provide information and advice about caring for a child with thalassaemia major
  • offer you the newborn blood spot screening test after your baby is born and you should receive the result before you baby is 28 days old

If you decide to end your pregnancy the specialist team will give you information about what this involves and how you will be supported.

Only you know what is the best decision for your family.

Whatever decision you make, your healthcare professionals will support you.

Planning for pregnancy

If you and your partner are planning a pregnancy and are both carriers, there is a 1 in 4 (25%) chance your baby could inherit thalassaemia major. These chances are the same in each and every pregnancy that you have together.

The following options may be discussed with your GP, midwife or specialist counsellor:

Prenatal Diagnosis (PND) early in a future pregnancy

This can be performed after 11 weeks gestation giving more time to consider your choices if the baby has thalassaemia major. You would need to see your GP or midwife as soon as you know you are pregnant.

Pre-implantation genetic diagnosis (PGD)

PGD is a reproductive treatment used in in-vitro fertilisation (IVF) which involves checking the genes or chromosomes of your embryos for a specific genetic condition. It can help to avoid a pregnancy with a genetic condition for which a couple is at risk. You can ask to see a genetic counsellor to discuss this option.

Assisted pregnancy using donated eggs or sperm from people who are not carriers.

This means either you or your partner would not be a biological parent of your baby. You can discuss this with your healthcare professional.

More information

For more information, see:

The NHS Screening Programmes use personal information from your NHS records to invite you for screening at the right time. Public Health England also uses your information to ensure you receive high quality care and to improve the screening programmes. Find out more about how your information is used and protected, and your options.

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