A-Z

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. 

 

When she has a crisis, it's the worst kind of pain she has ever had. Keeping warm helps her avoid...

When she has a crisis, it's the worst kind of pain she has ever had. Keeping warm helps her avoid...

Age at interview: 41
Sex: Female
SHOW TEXT VERSION
PRINT TRANSCRIPT

Video and audio clips read by an actor.

I mean some people have other symptoms, but mine's mainly pain, pain either in my arms or my leg. They usually last for about a week. And that pain is so severe - you just can't describe that type of pain. I mean, sometimes I will say it's the most painful, more painful than giving birth, you know. So I'll go to the hospital, they will give me really powerful painkillers like diamorphine - that shows how really painful it is. When I was younger I wasn't getting all this pain relief. So when they give me diamorphine or pethidine - initially they were giving pethidine - it helped the pain. It will help you to relieve, just taking the edge off the pain, but the pain is still there. It will be there for about a week, you know, I'll be in hospital for about a week, and then I'll be discharged. So eventually I realised that with the cold weather it actually triggers off the pain more than anything, so I realised I need to keep myself warm. I started reading more about it. I need to keep myself warm, I need to drink a lot of fluid and everything else, you know.

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.

 

Her daughter with sickle cell anaemia had been well but suddenly started having strokes. She had...

Her daughter with sickle cell anaemia had been well but suddenly started having strokes. She had...

Age at interview: 37
Sex: Female
SHOW TEXT VERSION
PRINT TRANSCRIPT
She, we went on holiday during the last, the last long holiday. When we went - we went to France, we went to Disneyland - and at Waterloo train station, when we get there she couldn't stand up. I was thinking, 'What's this?' Then she's - I didn't know, I thought it was a cramp. Then, about 30 minutes then she can walk normally then - fine. Then the second one was she finished using the toilet and to get down she just fell, she couldn't walk. Then she couldn't hold any object, left, and her right leg. Yeah. So I was thinking 'What is this?' Then I took her to the GP and the GP said, 'Maybe it's sickle cell' you know. 

The GP, the GP just, she goes, 'There's nothing, it may be sickle cell.' Then the third one it was around six o'clock in the morning. She was crying, and I went to her bed, and when I got there she was dripping saliva coming out, out of her mouth. I said, 'What's this?' Then she was doing [demonstration of clicking sound] that sound. For a good three hours she was doing this. Then I took her to the GP and the GP said [er] maybe it, it was epileptic. I'm like, 'No', because I don't have epileptic in the family and the Dad doesn't have epileptic in the family, so where's she going to get it? Then she said, he said he would write to the hospital, then they would write to me for an appointment. 

Then the next day the hospital called me on my mobile that I have to bring her on that day. Then when I got there, I explained everything to the doctor, then the doctor said she didn't think it's epileptic - it's stroke. 'Stroke? Where's she going to get that from?' And she said, - so I didn't know that SS [sickle cell anaemia] children can have stroke. 'I wasn't told.' So, 'Oh.' Then she said she would phone the SS, the sickle cell consultant to come and talk to me. That they have to do the CV - MRI scan for her. She was there in the hospital for two weeks, because they didn't let us go home. Then they did - MRI scan and they said she's slightly, the right brain is slightly damaged, that she'll have to be having transfusion every four weeks to reduce, to minimise the stroke.

Because presumably that's sickling happening'

Yeah.

' in the blood vessels in the brain.

Yeah. That's what they say, yeah. Exactly.

Footnote' Stroke occurs in about 10% of children with sickle cell anaemia.

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.

 

In Nigeria her son with SC disorder was very ill with malaria. Since they have been in London, he...

Text only
Read below

In Nigeria her son with SC disorder was very ill with malaria. Since they have been in London, he...

Age at interview: 35
Sex: Female
HIDE TEXT
PRINT TRANSCRIPT
As time went on, obviously when I looked at my baby I just looked - he looked healthy to me, there was nothing wrong with him or anything. But then after some time, I think, being in Nigeria, malaria's the worst that hits the child, and with someone that has SC [haemoglobin SC disorder], I think it's even worse. His temperature's always going high. Over the years he did have high temperature. He was always admitted to hospital and, you know, really losing weight and either having serious diarrhoea because of all the medications he's taking. So it was quite an emotional time, every time we were admitted into hospital. You know, that happened like three or four times.

And then I think as he got a bit older, maybe one or two years old, he would get the malaria with the high fever again and, you know, the most important thing is just try and control that fever, you know. I mean, it could get as high as I think 40 or something, or 39? Really high, and you know, it was quite scary, because sometimes, there was a time he was even shaking with it. You know, that was quite frightening, but, as a Christian, we put everything in God's hands, and that really helped me, you know. It really helped us and everything, and we just left it, put everything in God's hands, and did what we had to do for him to care for him. And that was that, really, you know. 

I mean, everybody, every time he's sick everybody's panicking and, you know, running around, and families, the two families would come and visit us in hospital. You know, it was quite stressful but, you know, we got through it. And then we moved over to London, you know. And then he's now five, and since we've been here there's been nothing. He's not been sick or anything, in any form, nothing - just colds and, you know, the basic things you get when you're in a different climate.

Footnote' Haemoglobin SC disorder is a type of sickle cell disorder in which the child has inherited hameoglobin S (sickle cell) from one parent and haemoglobin C from the other. Whilst it is a type of sickle cell disorder, it is a distinct condition. The symptoms can be similar to sickle cell anaemia, but SC disorder is often (but not always) milder in its effects than sickle cell anaemia. 

 

She worries all the time about her 2-year-old daughter's health, even though she has not yet had...

Text only
Read below

She worries all the time about her 2-year-old daughter's health, even though she has not yet had...

Age at interview: 30
Sex: Female
HIDE TEXT
PRINT TRANSCRIPT

Even up till now it's like whenever she goes to - because she's started going to nursery - it takes me time for me to let her go out to like play with other people, like go to weekends. Because I had to stay with her at home for a year, eight months. I couldn't let her go to nursery because I was thinking, 'Oh, maybe she goes to somebody's house, she might have a crisis. I'm not there.' So I didn't let her go. So she was like stuck with me. As soon as I leave the house, the room, she starts crying. She didn't want to go to anyone. But when she started going to the nursery now at least she's fine. She's never - thank God - she's never had a crisis before. I'm so happy for that now. And she's doing fine, she's doing so fine.
 

 

Her 9-year-old son with sickle cell anaemia has been in intensive care with respiratory problems....

Her 9-year-old son with sickle cell anaemia has been in intensive care with respiratory problems....

Age at interview: 40
Sex: Female
SHOW TEXT VERSION
PRINT TRANSCRIPT
English translation:

Personally I think that here they're already doing very well. And, because we know that sickle cell varies from child to child and there are misleading symptoms. Because there are some children who are very slender, very thin, like mine, and then there are others who are quite hefty, quite beefy, and you think they're in perfect health. And of course that's not the case.

Suddenly a crisis?

Crisis is part of it, because crisis, you can recognise it. It's in their limbs. But I know with my child, for example, that he's developed cardiac problems. And every time he has a crisis, sometimes there are problems of infections in his lungs. And it's not easy. And when you're talking about infections in the lungs, then sometimes there'll be respiratory problems and he'll find himself in Intensive Care. Last time he was there, last month, there was another infant, another child next to him. And they ended up playing together. But when they came out they both had slightly different problems. He even had a, a small problem with his brain. And when you see them, people say, 'Oh, they come here. They'll leave a week later. It's not that serious'. But it is serious. It's a problem which is very serious, both for the parents and for everybody around them. But in general I think that here in England the staff have started to be really well trained for that and they put everyone at their ease. I think that's the most important thing. Put the parents at their ease and the child at his ease and then the rest will follow.

French original:

Moi, je pense, déjà ici ils le font assez très bien, et que comme on sait la drépanocytose ça varie d’un enfant à l’autre, et ils ont des signes très trompeurs, les enfants, parce qu’il y en a qui sont fins, maigrichons comme le mien, et d’autres qui sont très costauds, balèzes, on pense qu’ils sont en pleine forme, et puis ce n’est pas le cas.

D’un coup la crise.

La crise est dedans, parce que il y a la crise comme on connait par, c’est les membres, mais je sais que le mien, par exemple, il a developpé des problèmes cardiaques, et à chaque fois qu’il a une crise parfois c’est des problèmes d’infections, des poumons. Et c’est pas facile. Qui dit infection des poumons donc parfois qu’il a des problèmes respiratoires et se retrouve en soins intensifs.  La dernière fois qu’il y était le mois dernier, il y avait un enfant qui était à côté de lui, à la fin ils jouaient ensemble mais quand ils sont tous rentrés chacun avait des problèmes différents, lui on avait même détecté un petit problème du cerveau.  Et quand on les voit, on se dit, ‘Oh, ils viennent là, ils vont sortir une semaine après, c’est pas grave.’ Mais c’est très très grave.  C’est un problème qui est très grave, et pour les parents et pour l’entourage, donc. Mais en gros je pense qu’ici en Angleterre le personnel a commencé à être, par commence est très formé pour ça, et met tout le monde à l’aise, quoi. Je crois que le plus important c’est ça, mettre les parents à l’aise et l’enfant à l’aise, et après le reste se fait tout seul.

 

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. 

 

She encourages her 9-year-old daughter and other family members to share responsibility for...

She encourages her 9-year-old daughter and other family members to share responsibility for...

Age at interview: 36
Sex: Female
SHOW TEXT VERSION
PRINT TRANSCRIPT
And I know I've got my, the counsellor is always there and I - because she sees the consultant in the hospital from time to time. So I just, I have a book that I put, I write my questions in for the time, for the next time we visit the clinic, and she keeps a book as well. If she has any problem I can't answer to, I always refer back to her book. And she can write them down and ask the doctor when next she goes to the hospital. Because she needs to know about these things. It's her condition, not mine. 

I can only guide her and support her to some extent. She is going to be dealing with it throughout her life, and her brothers are very aware of it as well. We go to seminars together. We go to the hospital together when we have to. They look after her. When she's playing out in the cold not wearing her gloves, or not wearing her scarf, they drag her in and make sure she wears it [laughs]. When she's drinking too much cold water or ice cream when I'm not there, they know they have to give her something warm to drink. When it's cold in the house, they know the heating has to be on. So, it's quite important. It's important. 

 

The mother and baby group at the sickle cell centre helped her learn how to manage the condition....

Text only
Read below

The mother and baby group at the sickle cell centre helped her learn how to manage the condition....

Age at interview: 30
Sex: Female
HIDE TEXT
PRINT TRANSCRIPT

There was, when they told us at home - because they came home to talk to us - when they came to my place to talk to us, it was like then a month later or I think, yeah, the following month - because they have it every first Wednesday, the mother and baby group - I started going in there. They started like showing us videos about it, like other people, like how it affects other families. And I've like got, I've got like lots of videos, because they did, like whenever we go in they will show us, after they will finish talking to us they will show us videos about like what's going on and what it's like to have sickle cell, it's like to have kids with sickle cell. They will have people that are sickle cell suff-, carriers to come in and talk to us at the centre, which I think is good. Like to tell us the experience they've been through as well.

And, and is it helpful having other mothers that you can talk to?

Yeah, yeah.

Do you contact each other outside the group?

Hmm, no [laughs], no. It's just that we don't like call each other or whatever outside the group. But I've been to like, when I go out if I see them we'll sit down and then we'll like chat and talk about, 'Oh, how is the child?' or whatever. It's like we'll sit down and talk about it. But I've never like called anyone outside the group, no.

But within the group do you talk much amongst yourselves? Or is it mainly listening to other people?

We, you, we explain about things. Because for example like when she started taking the medicine, the penicillin and folic acid, because I didn't have - there was one point I was like so worried because she couldn't drink the medicine any more. I was like saying, 'Oh, if she doesn't drink the medicine she might have a crisis.' And then I was like worrying because I think she got fed up with the taste. And surprisingly now she's the one reminding me in the morning to give her the medicine. When I wake up in the morning she comes in and say, 'Mummy, medicine please.' And she goes in the fridge and get the medicine and everything out, yeah. She's the one, even in the morning if I'm rushing to go out to get to work she will run up and tell, 'Mummy, medicine please.' And so I have to give it to her in the morning before going [laughs].

Footnote' taking penicillin regularly helps prevent people with sickle cell disorders from getting infections.
 

 

Sickle cell can be managed. She tells friends what to do, so her son can have a normal social...

Sickle cell can be managed. She tells friends what to do, so her son can have a normal social...

Age at interview: 40
Sex: Female
SHOW TEXT VERSION
PRINT TRANSCRIPT
English translation:

Well, you have to try to banish fear. In fact people are afraid because it's in our mentality, in that people aren't made aware that sickle cell is a long-term illness and that it's not, it can't be cured but at the same time it can be treated, and that you can live a long time with it these days. And you can say that it's an illness like any other, even if it manifests itself in several different ways. But not to take it as an isolated illness, but to take it as an illness like any other illness and which can be managed in our society. Because in fact in singling out this illness or isolating the families, you isolate everyone. And I think that it all comes down to that. So isolation, fear and then pity. And none of that helps. It's an illness. You just have to face it. There are things you have to do every day. There are medications to take every day. So you have to be careful. 

At the level of the family and all the people around the family, whether that's in-laws, friends, everybody has to know what kind of treatment the baby has to take, the child has to take. So I take great care when they're going to my friends or they're going to spend a day there. '[Son] has a big bottle. So please make sure he, he finishes the bottle. And if he finishes it, please fill it up again for him'. So everybody, it, it's so that everybody feels responsible. And that doesn't prevent him, just because he has this bottle, that he can't, that doesn't prevent him from playing with others. It doesn't mean he can't go and sleep over at other people's. Because often I know that in Paris, even we at the start with this lack of information, we used to say to ourselves, 'Oh, he'll never be able to sleep over at other people's houses. We'll never be able to leave him with our family. We'll never be able to leave him with friends, even to look after him for a bit. We'll never be able to have a babysitter'. So in fact then you find yourself enclosed in your circle, in one room. And then that's it.

Footnote' Sickle cell anaemia can be cured by a bone marrow transplant, but this is restricted to a very few people who have an unaffected sibling and whose bone marrow provides a perfect match for donation. In England this procedure is restricted to individuals under the age of 16.

French original:

En fait, essayer de faire partir la crainte.  En fait les gens, ils ont peur parce que c’est dans notre mentalité.  Tant que on ne fait pas comprendre aux gens que la drépanocytose c’est une maladie à long terme et que elle n’est pas, elle ne se guérit pas, mais en même temps on la traite, et qu’on peut vivre longtemps avec maintenant. Et on peut dire que c’est une maladie comme une autre, même si elle se manifeste de plusieurs façons, mais de ne pas la prendre comme une maladie isolée, mais de la prendre comme une maladie comme toute autre maladie et que ça se gère dans notre société. Parce que en fait si, en fait en isolant même la maladie, bien, on isole les familles, on isole tout le monde. Et je crois que tout ça vient de là, donc de l’isolement, la crainte et puis la pitié, et tout ça ça ne règle rien.  C’est une maladie, on fait face.  Il y a des choses à faire tous les jours, il a des médicaments à prendre tous les jours, donc on fait très attention.  Au niveau de la famille, que tout le monde autour de la famille, que ce soit la belle-famille, les amis, tout le monde doit savoir quel genre de traitement l’enfant doit prendre. Comme ça je fais même attention quand ils vont chez mes amis, ils vont passer des journées là-bas. ‘[son’s name] a une grande bouteille, donc faites attention qu’il finisse la bouteille et s’il la finit, vous la remplissez encore.’ Donc tout le monde, pour que tout le monde se sente responsable, et ça n’empêche pas parce qu’il a cette bouteille qu’il ne peut pas jouer avec les autres, qu’il ne peut pas aller dormir chez les gens, parce que souvent moi je sais qu’à Paris, même déjà même nous-même au départ avec ce manque d’information, on s’est dit, ‘Mais jamais il ne pourra aller dormir chez des gens, jamais on pourra le laisser dans la famille, jamais on ne pourra le laisser avec des amis, même pour le faire garder, même pour prendre une nounou.’ En fait après on se retrouve fermé dans un cercle, dans une pièce et puis voilà, quoi.

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. 

 

It was hard to combine work with caring for her son. Eventually she stopped working. [C''tait...

It was hard to combine work with caring for her son. Eventually she stopped working. [C''tait...

Age at interview: 40
Sex: Female
SHOW TEXT VERSION
PRINT TRANSCRIPT
English translation:

And then there's your professional life, because you can't predict when crises are going to happen. At the start you're, well, certainly I was very involved in my work, I had responsibilities. And little by little I started to take on fewer responsibilities, especially when he started at nursery school. As soon as he had some little thing wrong with him, they called me, I had to be there. Because the school doesn't take any responsibility, because it's not a parent. And it's always mum who has to leave work, who's nearest . And so it's always mum who had to keep missing work, and gradually, at work they didn't say, 'You're no good to us any more'. But at the same time I understand how others feel. They need someone who can be available a hundred per cent. And because they couldn't count on you, then they started giving you fewer responsibilities. You do what you can, but at the same time that's it. And so those were the three things which transformed my life. And in the end I was practically obliged to stop working. I went from full-time to part-time, and then after part-time there was nothing at all. And that's it.

French original:

Et après vient la vie professionnelle, parce que les crises ça ne prévient pas. Au départ on est très bien - surtout moi - j’étais très bien impliquée dans mon travail, j’avais des responsabilités, au fur et à mesure j’ai commencé à avoir mes responsabilités se  dégrader, surtout quand il a commencé la maternelle. Dès qu’il avait un petit mal on m’appelle, il faut être là, parce que l’école ne prend aucune responsabilité tant qu’il n’y a pas un parent, et comme c’est la maman qui est toujours partante, qui est plus proche, et ben c’est maman qui quittait tout le temps le boulot, au fur et à mesure après, au boulot on ne te dit pas, ‘Tu ne sers plus à rien’, mais en même temps je comprends les autres. Ils ont besoin de quelqu’un qui doit être disponible à 100% et comme on ne peut pas compter sur toi, bien on ne te donne plus trop de responsabilités.   Tu fais ce que tu peux et puis en même temps sans plus. Et là ça a été ces trois choses qui ont transformées ma vie. Et à la fin ben j’étais presque obligée d’arrêter le travail.  Je suis passée de temps plein à temps partiel, et puis après le temps partiel il n’y a plus rien du tout, voilà.
 

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.

donate
Previous Page
Next Page