Screening for sickle cell and beta thalassaemia

Living with sickle cell disorders

People who are making decisions about screening and diagnosis for sickle cell disorders often ask what life would be like for a child affected by these conditions. This can be a difficult question to answer, because the symptoms and quality of life differ from person to person. Some people will have very few health problems; some will have periods of good health interrupted by occasional episodes of pain (or 'crises') and other symptoms; and some people will have more severe and frequent problems. It is impossible to predict what the outcome will be for each person, and sometimes someone who has been very well for a long period will suddenly develop complications. Sickle cell anaemia can be cured by a stem cell or bone marrow transplant, but this has historically been restricted to a very few people who have an unaffected sibling and whose bone marrow provides a perfect match for donation and are under the age of 16. Recent research has been looking at ways to make this treatment available to adults.

We talked to two women who themselves had haemoglobin SC disorder, as well as to several parents of children with SC disorder and sickle cell anaemia. SC disorder is often milder in its effects than sickle cell anaemia, but it can still cause most of the same symptoms and complications. One mother grew up believing she had sickle cell anaemia and it was only when she came to the UK in her twenties that she was re-diagnosed with SC disorder. She grew up expecting she would not survive past her teens, and she had so much pain she had to drop back a year at school. She described how she experiences the pain, and what she can do to avoid it. 

Once she was told she would not die young as she feared, she felt she had a new lease of life. 'I was motivated to actually go on with life and achieve things in life, go on to study. I went to college, went to university… I was still having problems in between but it was just like, “Okay, it's there and I can't stop it but I can still do something with my life”, basically.'

Another mother who has SC disorder has one child with SC disorder and one with sickle cell anaemia. The child with SC disorder was more ill and had more crises than her sister, until suddenly the child with sickle cell anaemia had a stroke, at the age of four. 

Strokes, both silent and overt, are a major complication of sickle cell anaemia. Before current screening procedures using transcranial Doppler scans (TCDs) the number of overt strokes in childhood was between 5-11% (with a median average age of 7 years). The number of overt strokes has fallen dramatically because if children are found to be at high risk they can be offered regular blood transfusions to reduce the amount of sickle haemoglobin in their blood. Silent strokes, defined as changes on magnetic resonant imaging (MRI) scans of the brain occur in about 20% of young people by the age of 20 years. These silent strokes can cause difficulties such as poor attention or learning problems. Currently it is not clear how silent strokes can be prevented and regular blood transfusions have not been shown to be effective. All children with Hb SS should be offered TCDs annually from the age of 2 years.

This mother felt she had not been fully informed of the risk of stroke. Early diagnosis and medical care is important to help prevent further strokes and brain damage, so it is vital parents and health care staff know the symptoms to look out for, especially sudden weakness in the face, arms or legs on one side of the body, problems with balance, walking and co-ordination, and sudden difficulties with speech or blurred vision in one or both eyes.

The uncertainty of living with the condition can be hard to deal with. Several parents we spoke to were relieved that their child was currently doing very well, but some still felt very protective and anxious that things might change at any moment. Some had seen their child go through episodes of quite severe ill health. As well as pain crises and stroke, symptoms can include infections and breathing problems.

Parents described several things they could do to help their children avoid crises, including keeping warm and avoiding cold or damp conditions, drinking plenty of fluids and eating healthily. Having an SC disorder can affect a child’s spleen, which is an organ in the body that helps fight infection so nowadays many children take regular antibiotics (penicillin) and can be vaccinated against pneumococcal infections. In young children and those with spleen problems pneumococcal infections can be life threatening. An annual vaccination against flu is also advised. Some parents talked about how they encouraged the children themselves, other family members and friends to help share the responsibility to make their life as healthy and normal as possible. Going to support groups and meeting other parents could also be a great help in learning how to manage the condition. 

A problem for parents is that sometimes other people they come across are not aware how important it is to prevent crises and infections. Several people had to explain to school teachers and nursery staff why their child might need to drink a lot and use the toilet more often during lessons, or why they should not go out in very cold weather for PE lessons or break-time. One had difficulty convincing the local housing department why she should be moved from poorly heated housing, and another was wrongly told by a GP receptionist that her daughter was not eligible for a flu vaccination. 

Caring for a child with a sickle cell disorder has a practical effect on parents' lives, including their working lives. The unpredictable nature of these conditions can make it hard to keep up full or even part-time paid work (although self-employment or voluntary work may be appropriate alternatives for some people). As one mother said, 'Every time the phone rings, I say to myself, “Oh, it's the school calling again. I'll have to go and fetch him”.' She explained how she'd found it increasingly difficult to work. 

A single mother explained that although her employer was supportive, there were times when she had to take unpaid leave. This was difficult to afford, especially as she still had to keep paying for the nursery place even when the child was sick. 

See also 'Seeing other family members/friends' experiences'.

See our section on 'young people and long term term health conditions' for experiences of sickle cell anaemia.

Last reviewed December 2018.
Last updated
December 2018.


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