• What is sickle cell?
• What is thalassaemia?
• How common are the disorders?
• Who is likely to be affected?
• Can the condition be passed on if only one parent is a carrier?
• Do parents have to be of the same ethnic background to pass it on to their unborn child?
• What is the NHS Sickle Cell & Thalassaemia Screening Programme?
• What is antenatal screening?
• Antenatal screening will lead to pregnant women being able to make informed choices – what are these choices?
• Who will provide the services and how will these fit into the routine maternity services?
• What is newborn screening?

What is sickle cell?

Sickle cell is a condition that affects the normal oxygen carrying capacity of red blood cells.  The symptoms can include severe anaemia, intense pain, damage to major organs and infections.  These episodic periods of pain are sometimes called ‘crises’.  Although there is no routine cure for sickle cell, it can be managed to reduce the frequency and severity of crises and their complications by prompt recognition and treatment

What is thalassaemia?

Beta major thalassaemia, the most severe form of thalassaemia, reduces the amount of haemoglobin made by the body.  Those with the condition can suffer from diabetes, growth problems, and problems with puberty or early menopause. Regular treatment and blood transfusions are necessary although bone marrow transplantation is an option for a few.

How common are the disorders?

Sickle cell & thalassaemia are among England’s most commonly inherited genetic disorders.  Sickle cell affects an estimated 12,500 people with an estimated 240,000 carriers. Around 700 people are affected by major thalassaemia with an estimated 214,000 carriers.

Who is likely to be affected?

The highest prevalence of sickle cell is found among Black Caribbean, Black African and Black British communities and the highest prevalence of thalassaemia is found among Cypriot, Indian, Pakistani, Bangladeshi and Chinese communities. However, as these are inherited genetic disorders, it is impossible to automatically exclude anyone.

Can the condition be passed on if only one parent is a carrier?

No, the condition cannot be passed on if only one parent is a carrier.  However, carrier status can be passed on to children, but they will not be affected by the disorder. If both parents are carriers there is a 25% chance with each pregnancy that the child will be affected by the disorder.

Do parents have to be of the same ethnic background to pass it on to their unborn child?

No.  It is only their carrier status that impacts on the chances of having an affected child.

What is the NHS Sickle Cell & Thalassaemia Screening Programme?

The Sickle Cell & Thalassaemia (SC&T) Screening Programme was set up in England in 2001 following Government commitment in the NHS Plan (2000). It is the world’s first linked antenatal and newborn screening programme.

What is antenatal screening?

At the antenatal stage, a screening blood test identifies pregnant women who carry the gene for sickle cell, thalassaemia and a range of haemoglobin disorders. Where a woman is a genetic carrier, the baby’s father is also offered testing. If both parents are carriers, there is a 1 in 4 chance with each pregnancy that the baby will have the disorder. At risk couples will be offered a range of counseling and diagnostic tests for the baby. The overall aim of the programme is to offer informed choice and to support people to make decisions in line with their beliefs and values.

Antenatal screening has been rolled out in most high prevalence areas and the target is to achieve coverage throughout England by summer 2007. In low prevalence areas, a questionnaire looking at family origin will be used as an initial screen to assess risk for sickle cell disorders.

Antenatal screening will lead to pregnant women being able to make informed choices – what are these choices?

The aim of the programme is to support informed choices. Screening identifies women/couples who are genetic carriers and whose babies would be at risk of inheriting sickle cell or thalassaemia disorders.  Appropriate, culturally sensitive, counselling and information is provided to people identified as carriers. This supports them to understand the conditions, learn about the care and support on offer and choose whether to accept a further diagnostic test that will confirm whether their baby has the disorder. If the baby has inherited the disorder, further counseling is provided to help parents decide whether they wish to continue with the pregnancy or to opt for termination.

Who will provide the services and how will these fit into the routine maternity services?

Midwives will be incorporating the services as part of the routine maternity care. However, primary care is increasingly playing an important role. This is partly because screening should be offered early in pregnancy – before 10 weeks. In addition, primary care is well placed to offer pre-conception information and screening.

What is newborn screening?

Newborn screening for sickle cell is offered to all babies and is integrated into the existing bloodspot programme. Screening is already identifying approximately 300 babies a year who would be at risk of death unless penicillin was administered promptly.

The SC&T programme is breaking new ground in the field of genetic testing. For the first time, a screening programme is not only revealing a condition but also identifying and systematically communicating carrier status. This has important ethical and cultural implications as well as significant learning issues for the NHS.