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Screening for sickle cell and beta thalassaemia

Newborn screening without screening in pregnancy

As part of the NHS national screening programme, all babies in England are offered a blood spot or heel-prick blood test when they are five to eight days old. Parents will be asked for their consent for the midwife to take a small blood sample from the baby's heel. The sample will be tested for several conditions, including sickle cell disorders. Some other haemoglobin variants (and conditions such as beta thalassaemia major) can also be detected during the screening process. (Beta thalassaemia carrier status cannot be identified at birth, because the presence of fetal haemoglobin masks carrier status for the first few months of life). Most people will be told nothing abnormal has been found. Others may learn their baby is a carrier of a particular haemoglobin variant, or has one of the conditions. 

Universal newborn screening means that every baby is offered the test, whatever the family origins of the parents. Many of these parents may never have heard of the conditions, and be completely unaware of any family history. Several people we talked to described how shocked they were to get the results saying their baby was a carrier, and some had not even fully realised that it was one of the things tested for in the heel prick. As one mother explained, in the early days after a difficult birth, she was not really focussed on the heel prick test.

 

They had never heard of haemoglobin E until they discovered the baby was a carrier.

They had never heard of haemoglobin E until they discovered the baby was a carrier.

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Had you, either of you heard of the condition before?

Father' No. I've heard of sickle cell but not actually haemoglobin E. It was all new to us, a bit out of the blue. 

So tell me what happened from, from sort of the heel prick [Baby noises]. Did you know what they were testing for when they did the heel prick?

Father' No, not at all, it was something they said everybody was having it done. They said it was a fairly new thing but it had to be done. Obviously you've told us that we didn't have to have it done, but at the time we weren't led to believe that. We were told it was all part and parcel of it. They did it. The next thing we had a letter from a lady in [city], not even the midwife didn't know at the time we were told. We had the letter and then obviously we got in touch with the midwife, and then she'd heard at the same time. 

So nobody actually rang you and talked you through it? It was just a letter?

Father' Just a letter. Yeah, just a letter.

What was that like getting that letter?

Father' It was a bit of a shock, because obviously it said that perhaps if we were both carriers we couldn't have any more children, or if we did there's more of a risk. 

Footnote' no-one has to have screening if they do not want to - it is a choice. Being a carrier does not prevent you from having further children, but this couple would not have wanted to try for another baby if they had discovered he was also a carrier of sickle cell or beta thalassaemia. (If both parents are carriers of haemoglobin E, however, there is no risk to the child's health).

 

They knew about the heel prick test, but they never gave it a second thought until the letter...

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They knew about the heel prick test, but they never gave it a second thought until the letter...

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Going back to sort of the heel prick, and what you understood about what they were testing, I mean, what information did they give you about the heel prick? Can you remember much about what you had?

Mother' No. Because we didn't have really too good a time in hospital after.

Father' No, because you had a rough time, didn't you?

Mother' So it was all, it was all a bit of a...

Father' We just took it that that was just part of the normal having a newborn baby. That, you know, that was just a treatment they do as a standard.

Mother' So they --

Father' They take bloods, do the tests. And then while they were doing that we were more concentrating to get, get the wife --

Mother' But she had quite a few, she had a couple of heel pricks because she was jaundiced. So they needed to, I knew that it was, it's, they were looking for the - is it the clotting? She had two or three, didn't she? She had the normal one for the testing, and they kept coming back because she was jaundiced and she was [laugh]

And you, did you have a rough birth then?

Mother' Yes [laughs].

Right. So your mind is on other things completely than the detail of what medical tests are being carried out?

Mother' Yes. Well, yeah, I mean wanting to tend to her, and I ended up having an emergency caesarean. So the shock of having to have that, not being able to move for a couple of days after, the baby being jaundiced, picking up an infection, having high blood pressure, and then finding a heart murmur in her wasn't really a [laugh] very first good week.

Father' Within the first three days or something, wasn't it?

Mother' So we didn't, it was all a bit of a blur. The sort of, it was a shock when the letter come through the post. Because I think it was just one thing out of the week after she was born was we didn't give a second thought. We knew obviously that they'd come and they'd done the test. But with everything else that went on in hospital - I mean we probably, we probably did have leaflets. And I think if we'd had had a nice delivery and sort of, you know, a nice couple of days, then I don't know, it might have been different. But we, it's just one thing we just didn't give a thought to. It's just something that hospitals do, mainly for their records, not for anything that - unless there is a problem obviously that we need to know about.
 

Another mother was aware sickle cell was part of the heel prick test, but because she had previously been told she was not a carrier she never expected her children would be (see Interview 28, 'Carrier screening for other reasons').

As with carrier screening in pregnancy, people who were told their baby was a carrier were often worried at first that this meant there was a serious illness, until they talked to a counsellor who could explain to them that it would not affect the child's health. Some people found it hard to understand what the results really meant, or thought there might be a mistake. 

 

Even though the letter said her son's health was not affected, she did not feel reassured and...

Even though the letter said her son's health was not affected, she did not feel reassured and...

Age at interview: 32
Sex: Female
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I mean, in the letter that you got, what did it say in the letter can you remember?

It said, 'Your son has - in his heel prick test, results show that he's got abnormal' - is it 'abnormal haemoglobins'? It didn't say that he was a sickle cell carrier. I just went through the leaflet and whittled it down, and knew it couldn't be any of the other ones. It could only be sickle cell. And it was case of 'Whoa!' Because I mean, I just didn't expect it. And it said, yeah, 'He's trace of haemoglobins - nothing to worry about, your child's health is fine. We would just like to talk to you about it.' But that doesn't reassure you. It really doesn't reassure you. It puts a spanner in the works and frightens you, to be honest. It didn't reassure me at all. 

And it said at the bottom of the letter, 'If you want to ring me, ring me.' Well I did. I didn't wait for her to come and see me. I rang her. I wanted to know there and then. Because like I say, when it comes to my children, I don't mess about. I want to know, there and then.

Did the letter say she was going to come and see you anyway?

Yeah, it said she was going to come and see me in January and this, that and the other, so. And then so it was a case of I then had to wait for her to come out to see me. But she explained everything to me and I did feel a lot more reassured, a lot more at ease [laughs].

Footnote' the word 'trait' is sometimes used to describe carrier status. Sometimes it becomes confused with the word 'trace' which can give the wrong impression that it is insignificant.
 
 

At first they worried the baby was ill. There was no interpreter to explain he was a carrier. [Inicialmente eles estavam preocupados que o bebe tivesse uma doenca. Nao havia um interprete para explicar que ele era um portador.]

At first they worried the baby was ill. There was no interpreter to explain he was a carrier. [Inicialmente eles estavam preocupados que o bebe tivesse uma doenca. Nao havia um interprete para explicar que ele era um portador.]

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English translation'

Father' In my case I never knew I had this disease, I was never one to go to the hospital and find out.

So you had never heard about this condition?

Mother' Yes I knew about it

Father' We knew about it through other people...

Mother' He did not use to go to the doctor frequently, so he did not get to know about anything.

Yes, but anyway you don't have any symptoms of the disease. You are just a carrier...?

Mother' It's normal.

As a carrier you don't feel anything and you don't suffer any symptoms so the majority of people when they have something else to worry about won't go to the doctor. So it's normal. So you had heard about this before...?

Father' Yes, I had heard about it. My brother has that problem. I knew, I knew about how to react to this condition and I knew my brother had that problem, and so I never went to hospital to find out and have tests done.

So you only found out that the baby was a carrier after the heel test, wasn't it? I can well imagine how you must have felt, but can you explain a little bit what your reactions were at the time when you were already having a lot of problems - how was it? Did it make things worse?

Mother' When I heard about it for the first time they used to call it 'sickle cell disorders' and I had no Portuguese interpreter, and it was very difficult to find an interpreter, so it was them speaking in English and me trying to understand. When they said that he had a condition I got very startled, I wanted to know more but it was very difficult to understand everything. And they could not manage to explain properly. I don't know, I got sad and it was difficult for them to explain it to me. They tried to explain and I did not understand, and I was thinking it was something very serious, I did not know what was going to happen to the baby - and every day doing different tests and I got nervous - and I used to cry. 'What is going on?' But no, they said, 'It's going to be all right.' What is strange is that he went to see the result and then they left us alone, didn't they? It wasn't, 'Ah [own name] you have to go to the doctor frequently, you have to do this or that' - no, nothing.

So in the end you understood that he was a carrier, that he did not have the condition?

Mother' Yes, but in the beginning it was difficult. I did not know what it was and I took some time to understand what it was, but I have been doing everything as I should.

Footnote' often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested.

Portuguese original'

Father' O meu caso nunca soube que tinha essa do'n'a ...nunca fui daqueles de ir ao hospital e saber, saber.

Ent'o nunca tinha ouvido falar da existencia dessa doen'a?

Mother' J' tinhamos ouvido falar...

Father'
 

They did not understand at first what it meant that their baby had 'abnormal haemoglobins', and...

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They did not understand at first what it meant that their baby had 'abnormal haemoglobins', and...

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Mother' We knew nothing about it. We knew nothing about any, certainly not any sickle cell. We were in hospital, the baby had the heel prick, and that was it. And then it was probably, what would it have been, four weeks?

Father' Four or five weeks after.

Mother' Four or five weeks later, we get a leaflet and a letter through the post, don't we, telling us that the baby's got abnormal blood cells. 

Father' Haemoglobin something.

Mother' Yeah, abnormal haemoglobins, and that we had to go and take her back and have another heel prick test done. And with this leaflet was sickle cell. In my mind predominantly it is not our ethnic background. And plus your baby's five weeks old. We didn't know anything about it. And I don't think anybody would have pointed out the fact that she could be suffering, she could be a carrier of sickle cell, because of us being white.

Had you heard about the condition before then?

Mother' I knew about the condition, yeah. There was a work colleague that had sickle cell. So it frightened me, and as soon as I'd sort of come to terms with the fact that there was something wrong with, with the baby, and I knew how ill this work colleague had got through it. And I didn't know whether she had it, whether - we didn't know what it was. I mean, I think it was, it did say carrier.

Father' We did hope to start with that it was just a mix-up on the tests, didn't we?

Mother' Yeah. It just, it could have been that. But we, I knew, the gentleman at work, I knew how poorly he was with it. Blood transfusions and... As soon as I'd realised, I thought, oh, everything was racing straight through your head. So it was panic then. I think it was something like two weeks, wasn't it, that we had to go back. Oh, no, sorry, we didn't have to go back, did we?

Father' No, the lady came here.

Mother' There was, we had to make an appointment for the lady to come here and test - test us, rather than retest the baby, to test us.

Footnote' often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested.
 

For some parents, English was not their first language and this could cause problems understanding the results. Technical terms can also make it hard to understand even for English-speaking parents: 'It's just gobbledygook, goes straight over your head, doesn't it?… Please explain it to me in a word, in a phrase that I can understand'. People generally found it easier to understand once they could talk to someone rather than reading it in a letter, and they liked the use of diagrams to help explain how the conditions can be inherited.

 

It was easier to understand what being a carrier is once they talked to a counsellor. The midwife...

It was easier to understand what being a carrier is once they talked to a counsellor. The midwife...

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Father' I think it's always better to have, as you say, have a phone call and have someone talk to you, rather than have a letter, an open letter and think, 'Oof. What's this all about?' Which is, you know, the situation that we found ourselves in for the first, for the first 24 hours, and then waiting for the results and whatever. But the most important thing for us was actually speaking with somebody, and having somebody explain everything to us, you know? So. And maybe with it being more of a foreign, a foreign disease and perhaps it's with foreign people, it might be easier to have translators. Because my wife didn't really understand to a great degree, and obviously other people find the same situation. That might be a good thing.

Mm. So they haven't got any information in Thai?

Father' Hmm. The midwife was very, very good. She went onto a website. I mean, we haven't [er], we're not e-mail or website friendly, but the midwife got us some information off the Internet in Thai, which has helped my wife. 

Mother' Mmm.

Father' But we've asked all the way through the pregnancy for translators and interpreters, but obviously [laughs] we never got anything like that, so.

 

The counsellor explained what being a carrier meant and reassured them the baby was healthy.

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The counsellor explained what being a carrier meant and reassured them the baby was healthy.

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Father' That's the bit that worried me, because I'd never - I'd heard the term sickle cell but I had no idea what it involved and, you know, what sort of effects it has on a person. And then when my wife says about the fellow at work and, you know, the scenario he goes through, I just panicked that that's how-

Mother' We'd have to bring -

Father' -every six, twelve months, littl'un would have to go through all that. I wasn't ready for that. But then when we was informed that she's just got the traits of a carrier and she's not going to have it, she's not going to come down with sickle cell.

Mother' I think the immediate thing was we knew that she was okay, but.

Did she, when she came to do the testing, before you got the results, did she explain about how the condition is inherited from the, the two parents?

Mother' Yes. That's what, that's what made it, it clear. We understood that one of us had got bad blood, as such, and one of us had got good blood. And that's how we'd mixed and passed it down. So we knew. Just, it was four or five little people, wasn't it, drawn on this flipchart. And looking at that, you could see how we could both pass good or we could both pass - and that really, as simple as it was, made sense. Because you're looking, you're looking at someone that is talking to you, but not really a lot in English [laughs]. I mean, you see something like that and you go, 'Okay. So that's made sense now. I'm not thick, but I don't quite understand what you're saying'. And the panic's still whirring round in your mind, thinking, 'Well, what's going to happen?' But that did make sense. So we knew that one of us, one of us had got it.

Footnote' the term 'bad blood' would not normally be used to describe carrier status. The person who is a carrier has normal blood and is healthy. Often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested. The word 'trait' is sometimes used to describe carrier status.
 

One mother had newborn screening in her first pregnancy in France, where she understood it was a routine part of maternity care. She had no carrier screening in pregnancy, and neither she nor her husband had any knowledge of a family history of sickle cell disorders. They were shocked to be told their baby had sickle cell anaemia.

 

She was so upset she couldn't see the information video about sickle cell anaemia through her...

She was so upset she couldn't see the information video about sickle cell anaemia through her...

Age at interview: 40
Sex: Female
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English translation: 

Well, it's simply because of him that I know that I myself am a carrier. Otherwise I would never have known, nor would his father. Even in my family no one knew what sickle cell anaemia was and no one knew what it meant to be a carrier. So it was when they found that my son had the condition, two weeks I think after his birth we had the results and they called us back. 

At the time this was happening at the hospital [name of hospital], I think. Because he was born in Paris, and at the time they were the people in Paris who were specialists in sickle cell anaemia. So we went. There was a group which welcomed us and they explained what my son had and how one gets the condition. But all of a sudden like that it's very hard. Because I'd never heard anybody talking about it before. And it's serious, because it's an illness which is really serious. When you have a child born in good health, you look at him like all the other babies and then you realise, 'My God, he's got this and what are we going to do?' Of all the ways to try and explain to you that it was hard at that point, as soon as they explained that to me, they showed us a video to explain how it's inherited through families. And the first day I didn't see any of it, because I spent my whole time in tears.

French original:

Ben c’est tout simple, c’est grâce à lui que j’ai su que j’étais porteur moi-même, sinon j’ai jamais su, leur papa pareil. Et même au niveau de ma famille personne ne savait ce qu’était la drépanocytose, et personnne ne savait ce que c’était porteur. Donc c’est quand on a détecté la maladie sur mon fils et - deux semaines après, je crois, après sa naissance on a eu les résultats.

Et on nous a convoqués.  A l’époque ça s’est passé à l’hôpital [name of hospital] je crois, parce qu’il est né à Paris et c’est eux à l’époque à Paris qui sont spécialistes de le drépanocytose. Donc on est parti, il y avait un groupe qui nous a accueilli pour nous expliquer ce que mon fils avait et comment vient la maladie, comment on a ça.  Mais sur le coup c’était très dur, parce que je n’avais jamais entendu parler de ça et c’est grave, parce que c’est une maladie qui est très grave.  Quand on a un enfant qui naît en bonne santé, on le voit comme tous les autres bébés bien sûr, et puis là on se rend compte, ‘Mon Dieu, il a tout ça, et comment on va faire ?’  De toutes les façons pour vous dire à quel point c’était dur, dès qu’on m’a expliqué ça, on nous a montré une vidéo pour expliquer comment ça se passe avec les familles.  Le premier jour je n’ai rien vu parce que j’ai passé mon temps à pleurer.

 

You can hear more about how parents felt in 'Newborn screening - the effect on parents'.

For more information on the heel prick test and new born screening see the Public Health England's booklet on ‘Screening tests for you and your baby’ available from the GOV.UK website.

Last reviewed December 2018.
Last updated December 2018.

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