A-Z

Screening for sickle cell and beta thalassaemia

Feelings about the results

For many people, being told they are a carrier during pregnancy is a shock, especially if they are not fully aware that they are being tested for these conditions and do not know much about them. Pregnancy is already an emotional time, and anything that makes people worry about the baby's health will be additionally stressful. (The NHS Screening Programme is working to ensure that in future everyone receives clear and consistent information and advice before and after screening.)  A booklet ‘Screening tests for you and your baby’ should now be given to all pregnant women by their midwife or GP and it gives information about screening for sickle cell and thalassaemia in early pregnancy.

 

She had no idea what beta thalassaemia was when she got her results. The 10-day wait for her...

She had no idea what beta thalassaemia was when she got her results. The 10-day wait for her...

Age at interview: 22
Sex: Female
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Well I didn't know I was actually being tested for that but I did have a lot of blood tests, every time I went to see the midwife and at my antenatal, you know, times when I went there. And basically they took some blood, as they usually do, and then I had a letter saying that I had the beta thalassaemia trait. And obviously I didn't know what that was because I've never heard about that before. And they arranged an appointment to go and see a lady at the centre to, you know, obviously talk more about it. 

So obviously I went there and she just went through everything saying that, you know, my partner needed to be tested, because if he had the same that would have affected the baby, where he would have actually had it and been very ill, and you know, even talking about sort of termination and things like that, which wasn't very good. Because obviously I didn't know anything about it really, and it was pretty scary [laughs].

I got very emotional and was crying, you know? Because we didn't know we had to wait for [husband] to be tested, which took about ten days. And then we had to go on that result, but you know, luckily enough it was all right in the end. But it wasn't very good waiting, really, to find out if the baby had it or not, because obviously you worry. Because obviously the baby would have been very ill if he did have that.

Footnote' the word 'trait' is sometimes used to describe carrier status. Even if both parents are carriers, the baby may not inherit the condition. The baby has a 1 in 4 chance of having the condition, a 1 in 2 chance of being a carrier, and a 1 in 4 chance of not being a carrier.

 

She was upset by the letter telling her she was a sickle cell carrier, but the counsellor...

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She was upset by the letter telling her she was a sickle cell carrier, but the counsellor...

Age at interview: 31
Sex: Female
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English translation:

Well, it was when I was pregnant with my first son, I was 25, and at the time when I did my blood tests, it was then that they did a test for sickle cell, but I didn't know what it was for, because they used the English words 'sickle cell', so I still didn't know. It was the first time, I still didn't know what it was. And afterwards when I got the result it said I was 'sickle cell trait', and that day I felt as if I was ill, I was asking myself 'But what is this? What illness is this? What is it?' Anyway I was very traumatised. I even had an exam that day, but I was anxious. I went in to college, when I came back, when they sent me the results they asked me to contact a clinic. So I went there, and afterwards they called and made an appointment, we went, and it's there that they started to explain to us. And the woman who saw us knew what the translation in French was. She told me it was sickle cell and that it's not - that it's an illness where - sickle cell - it's when you are really anaemic. But as far as sickle cell trait is concerned, I wasn't to see it as having an illness. 

Absolutely.

Yes. So that helped raise my spirits again, because I was really down about it.

But if I can interrupt and ask the question, the first time, with the first baby, they told you there was something not quite normal, but did they explain more to you when you got the results from the blood tests you'd had at the start?

No, no, no. They just said, 'The blood test which you did shows you are sickle cell trait.' Yes. So I didn't have any other information, which was why I was so stunned by the news, because I didn't understand it at all, I didn't know what it was.

So it's clear that before you were 25 you knew absolutely nothing about it?

I knew nothing. It was at the moment when she talked about sickle cell that I remembered, because I learnt about it at school. Then I remembered about SS [sickle cell anaemia], all the things I'd learnt at school, and then I understood. 

Yes, but can I ask, you learnt that at school here in the UK, or in Congo?

In Congo, in the third grade.

They showed us drawings to help us understand. It was like photos and everything, they explained, they showed us what happens with a person who's AA [is not a carrier] and what happens when you have children and everything. So, that really helped us too. So afterwards when my husband had done the blood test, they sent us the result saying he was AA and that there was no problem.

Footnote: people often need help in understanding the difference between being a carrier, which is not an illness and does not affect your health, and having the condition. The word 'trait' is sometimes used to describe carrier status. 

French original:

En fait, c’est quand j’étais enceinte de mon premier fils, j’avais 25 ans et au moment ou je faisais mes blood tests, c’est là où ils m’ont fait un test pour détecter la drépanocytose mais je ne savais pas qu’il s’agissait de la drépanocytose parce que c’était ‘sickle cell’, donc je ne savais pas encore. C’était la première fois, je ne savais pas encore ce que c’était. Et après quand j’ai reçu le résultat on me dit que je suis sickle cell trait, le jour là j’étais comme malade, je me demandais, ‘Mais c’est quoi ? Mais c’est quelle maladie? Mais c’est quoi?’ En tout cas j’étais très traumatisée. J’avais même un examen ce jour là mais je n’étais pas à l’aise. Je suis allée à l’école, quand je suis revenue, quand ils m’ont envoyé les résultats ils m’ont demandé de contacter une clinique. Donc j’y suis allée et après on a appelé, on a pris rendez-vous, on est parti, c’est là ou ils ont commencé à nous expliquer, et la dame qui nous a reçu savait la traduction de sickle cell en français. Elle m’a dit qu’il s’agissait de la drépanocytose, et elle m’a dit que c’était pas – c’est une maladie en fait quand tu es – sickle cell - quand tu es anémique vraiment. Mais quant au sickle cell trait il, ne faut pas penser comme une maladie.

Absolument.

Oui. Donc c’est la, ou c’est elle qui m’a avait remonté un peu le moral, parce que j’étais vraiment très abattue.

Oui. Mais si je peux t’interrompre, je peux te poser la question, la première fois c’était avec le premier enfant, mais on t’a simplement dit qu’il y avait quelque chose qui n’était pas normal. Mais est-ce qu’on t’avais expliquer davantage lorsque tu as eu le résultat du sang, ou de la prise de sang qu’on a fait au début?

Non non non. Ils m’ont juste dit que, ‘La prise de sang qu’on t’a fait à montré que tu es sickle cell trait.’ Oui. Donc je, il n’y n’avait pas d’autres informations, ce qui m’a fait beaucoup plus bouleversée, parce que je n’avais rien compris, je ne savais pas ce que c’était.

Donc c’était clair qu’avant que tu avais 25 ans tu ne savais absolument rien.

Je ne savais rien. C’est au moment ou elle m’a parlé de la drépanocytose, que je me suis rappelée parce que j’avais appris ça au college. Là, je me suis rappelée les SS, tout ce que j’avais appris au college, voilà. Et là j’avais compris.

Oui, mais si je peux te poser encore une question. Tu as appris ça au college, ici en Angleterre ou au Congo?

Au Congo.

Ah bon?

Oui, en 3ème.

A few people said they were not really too worried or shocked when they got their results. This might be because they knew the condition was in their family and they were half-expecting the result. For some people it was because they didn't fully understand the consequences until they got to talk to a counsellor. One woman who had recently arrived from Bangladesh felt she did not really understand the significance of the results until after her son was born with beta thalassaemia major.

 

She was not very surprised or worried by her own carrier screening results, although it was more...

She was not very surprised or worried by her own carrier screening results, although it was more...

Age at interview: 36
Sex: Female
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And was there anything in this letter that you got that even said, 'Here's a number you could call,' if you wanted to? Or did it advise you to go to your GP?

I don't think so. I think well, I was communicating regularly with my GP and then when I got the results I automatically spoke to her about it - and I would have done anyway, therefore I don't remember if there was anything. But then what she said reassured me and therefore I didn't pursue it any more. 

How did you feel when you actually got the result? Was it a shock or'?

No, I'd expected it so much, I suppose, that it was just good to have a confirmation of what I suspected. I was quite surprised to see that my daughter had it. Somehow I didn't expect it. I didn't expect it to be handed down to her. But given that I wasn't too concerned for myself, I wasn't too concerned for her either.

Footnote' If one parent is a carrier, each child also has a 1 in 2 risk of being a carrier.

 

When his wife's screening results first came through, they did not realise it was anything...

When his wife's screening results first came through, they did not realise it was anything...

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Father' Well, yeah, it was the second test basically. And well, we were hoping that I wouldn't get it, but it turns out that, well, the result came and basically I'm carrying the haemoglobin I think E variant, which is not quite the same as beta that [wife] has, but is just as bad I think. So, yeah, I mean we were just hoping that I didn't have it but then, you know, we found out that we've both got it. And it was, just, you know - they called us basically and said, you know, 'You've got the results and we'll see you the day after' and, yeah.

So how did [wife] find out, how did you find out that you were a carrier?

[brief discussion in Vietnamese about who will answer]

Father'  I can speak for her. Well, she basically, we just had a routine blood test and then she just had a letter saying that, you know, 'Yes, you've got, you're carrying a beta sickle cell or something like that, and please come to like a specialist centre in [city].' And at that point we didn't take it seriously because it was like, because you never, we just didn't expect it, you know. There are certain things you read about it but you don't think that it will happen to you. So we just went along and, you know, they told us about the implication of the whole thing. And it was like very serious really. And we didn't expect that. We just thought it was another blood test, you know, and just maybe a bit more iron or a bit more or less. But we didn't expect it to be that serious.

Footnote' this man is a carrier of haemoglobin E and his wife carries beta thalassaemia. In each pregnancy, their baby will have a 1 in 4 risk of having haemoglobin E/beta thalassaemia, which may result in mild, moderate or severe anaemia.

 

Her husband was still in Bangladesh and was not screened. She did not realise the significance of...

Her husband was still in Bangladesh and was not screened. She did not realise the significance of...

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English translation, video and audio clips in Sylheti.

Mother' I got married in 1994.

1994?

Mother' Yes. After marriage I became pregnant and came to the UK by myself. My parents came before that. As I was pregnant I went for a test. They took my blood for tests to see if I was anaemic as I have just come from Bangladesh and felt weak. Having tested the blood they advised me to go to a clinic. Then they informed that I have the trait [beta thalassaemia carrier]. They also asked if my husband had the trait as well.

They found you to have the trait at that time?

Mother' Yes. My father had the trait

Your father?

Mother' Yes. That is why they asked me to get other members of the family tested. Now, I have the trait, my father has it. But my mother doesn't. My brother has the trait as well. Recently my sister was diagnosed to have the trait too. Then they asked me if I married within my own family. Then I said yes. They did not do anything more, as my husband was in Bangladesh at that time and testing was not possible. Thinking now it would have been better to go for more tests, to check how well the child is, when it happens to yourself. They informed me that there is a chance to have the illness [beta thalassaemia major] if you marry within the same family. After that, they didn't really do much.

Did you understand at that time what having the trait meant?

Mother' No not really, they explained what happens if children have the trait, that you'll have to be given blood [if the baby has the condition], and I was young then and did not take it so seriously. I was not sure that after the birth the child would require transfusions, and after that the iron levels would be high, and with high iron levels what could happen to the child. I did not know what all these meant. I did not take it so seriously.

Your father, having the trait, was there any problem?

Mother' No not really, they said that it could be in the same generation or others might have trait as well. At that time they weren't so advanced. I saw previous traits and I heard of things, they weren't improved. Slowly things did improve. I'm talking about 11 years ago. At that time they did not know so much as they do now. All that they knew was where the trait comes from in a generation and it's passed on from the family.

Some people find out through a letter, and then make an appointment to see a counsellor. Others get a phone call first. Some people felt a phone call was better because they could talk straight away to the counsellor and get information and reassurance, but it can still be just as shocking as a letter. A few people used the internet to help find out more, sometimes while they were waiting to see a counsellor and sometimes when they were waiting for partner carrier screening results.

 

She was shocked when she got a phone call to tell her she was a sickle cell carrier. She found it...

She was shocked when she got a phone call to tell her she was a sickle cell carrier. She found it...

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And a week had passed, two weeks passed, and I got a phone call. Some woman, and she was like, 'You've got sickle cell' - oh no - 'You're a sickle cell carrier.' I was like [showing surprise]. She didn't explain it, as in - maybe because I didn't listen to her well. The only thing that entered was 'sickle cell carrier', [laugh].

I was like, 'My goodness.' I just dropped the phone. I started crying. And my husband had gone out, so I called my mum back home in Africa. 'She said I was a sickle cell carrier.' My mum was like, 'You're not a sickle cell carrier. There's no sickle cell in the family.' I was like, 'No she said I was a sickle cell carrier.' My mum was like, 'Does that mean you're AS [sickle cell carrier]?' I said, 'She didn't say anything about AS, AA [not a carrier]. She just said I was a sickle cell carrier.' No, sorry, no - yeah, that's what she said. Then my mum said, 'OK, take it easy.' I'd stopped crying on the phone. Then she dropped the phone. 

Then the lady calls, calls me back and she says, no, what she meant that I had the trait, the trait of sickle cell, to carry a sickle cell baby, that she had to test my husband. So I was like, 'Oh.' So then I sent a text to my husband that like, 'Look, there's a problem, you have to come home.' And he got home I think about 30 minutes after. And I was like, 'This is what they said. You have to go in.' I said, 'Do you know your blood group?' And he was like, 'No.' I was like, 'You've never checked your blood group?' He was like, 'No.' He went the next day and [laugh] he came back looking gloomy. 'What's the problem?' He said they'd said he had the trait to carry, you know? So we're like, 'OK, we're both AS, AS.'

At that point I thought it was the natural thing to - 'AS, AS', at least there was no 'Sickle, SS [sickle cell anaemia], SS'. But she called me again, and she was like we had to come for meetings. We have to come to, for talks or something. She had to explain it well. I said, 'OK, no problem.' Later on I called her and I said, 'I'm not coming,' that I was fine with myself, my faith will carry me. Well, my husband said, OK, he will go. And he went and she explained. I think she explained it what AS and AS, all this stuff, how you get the sickle cell and everything, how it's one in four chances or something.That's how I heard we had sickle cell trait - or that's what they said.

Footnote' 'SS' means sickle cell anaemia, in which the child has inherited haemoglobin S from both parents. People often need help in understanding the difference between being a carrier, which is not an illness and does not affect your health, and having the condition. 

Blood group is a different issue unconnected with carrier status. Being a carrier is about the type of haemoglobin found within the red blood cells of certain people. Blood group is about tiny markers on the surface of everyone's red blood cells, called antigens. These antigens belong to one of four main blood groups (A, B, O or AB). Everyone has a blood group. If someone is given a blood transfusion, it must be from a compatible blood group. 

 

They opened the letter telling her she was a carrier late one evening. They searched the internet...

They opened the letter telling her she was a carrier late one evening. They searched the internet...

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Mother' Well, the thing is that the first, literally the first thing we did - and I didn't open this letter from the haemoglobinopathy nurse until about half past nine at night - we'd worked late or we'd been out and we came home and suddenly I thought, 'Oh, there's this letter.' And the letter was sent to me by my married name, and I use my maiden name, so I knew it was something connected with the, with the pregnancy. And I knew that obviously it was about the time we should be getting the test results. So I sort of opened it with a certain amount of trepidation. 

And then what can you do at half past nine at night? Well, the first thing you do is hit the Internet. And the - I think we went to the, straight away to the Thalassaemia Society website. And there's, if you let, allow yourself to read and link up as many times as you can, you can actually find some pretty disturbing information. 

And we, it was such a shock, that I think we immediately started looking at the, on the sort of blacker side of the picture. And initially you may not appreciate the distinction between how the condition is controlled and can be controlled in the UK as opposed to, you know, the, the lack of medication and transfusion facilities in the Third World for example. And I think we, all we managed to do in the sort of twelve hours before the nurse turned up was scare ourselves stupid that it was, you know, if the child had the condition it was a very bleak future. And, you know, you can, you get carried away and you can look at things like life expectancy and things like that. And you might not necessarily - and I'm not talking about any particular website - but you might not be looking at the most up-to-date statistics or the best statistics. 

And at times when you read personal stories you can read some very inspiring ones. And certainly you made contact with somebody by email who was very helpful and very supportive, who was an adult with thalassaemia major. And he, we got quite a lot of comfort from him in a, sort of over the sort of following few weeks et cetera. But you can also read some - for want of a better word - horror stories as well, which is not necessarily the thing that you should be doing when you haven't even got a diagnosis or a certainty. 

 

They were given helpful counselling and information to understand their results. They also found...

They were given helpful counselling and information to understand their results. They also found...

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So you went along for a blood test yourself?

Father' ' Yeah, after. After she got the test, then I had the test to see whether we'd both got the blood type basically.

And then you got a letter telling you the results, or a phone call?

Father'  Yeah, we - no. It was like, let me think now. The first like duration, we found, we came in on Tuesday and then they said that, you know, they'd do - what was it? My blood test would, would be in two weeks time. So, so two weeks time I phoned up and they said that I'd got the wrong blood type. And then after that we had the, taking the blood from the baby. So that's another week, you know. So that sort of duration. So it was obviously like over a three week period.

So when you went for the counselling and, knowing that you were a carrier, what did they tell you about the condition?

Father'  They gave us a leaflet and I think it was quite informative really, do you know? And the leaflet was sufficient, basically, saying that, you know, basically if we've both got the - just this 1 in 4 chance that we, the baby got both our genes then it will be bad. And, you know, I did some Internet research and things like that. I think we did understand more once I got the test as well. There's a particular website on the UCL university, and that's very very informative, because that's, I think that's the most informative bits really, do you know? It's sort of really, you know, saying, 'If you've got this type, this type, this type, this type.' I think that's the best website that I found, you know, if you've got a certain condition between two people.

That's the APoGI website?

Father'  Yeah, the APoGI one, yeah.

Yes, because presumably it must have been an issue for you that you had a beta and an E variant...

Father'  Yeah.

...and trying to work out what that means?

Father'  Yeah, because I mean we thought, 'Well, one a beta, then I've got a haemoglobin E,' then thought, 'God, you know, how unlucky is that?' you know. I thought, you know, because I haven't got beta, I thought I'd got away with it. But then it turns out that I've got this haemoglobin E malarkey. But that website is very good, really. But I mean all the results - and you can read as much as you want - but I think our philosophy is, 'The bottom line - what is the bottom line, really?' And the bottom line is, you know, we've just got to hope the baby don't have our, both our blood type really. And I think that, you know, we can read as much as we want - I mean we've done some reading, but there's no point in reading any more, do you know what I mean? Because you've just got to wait for the results and just, you know, if it happens, it happens. 

Footnote' APoGI (Accessible Publishing of Genetic Information) website is at www.chime.ucl.ac.uk/APoGI/ and has leaflets explaining different gene variants and their implications for couples www.chime.ucl.ac.uk/APoGI/data/html/hb/couples/menu.htm 

People are often concerned at first that they have some serious illness. Talking to a counsellor can help in understanding the difference between being a carrier, which does not affect your health, and having the condition. Many people commented on how helpful and supportive they found the specialist sickle cell and thalassaemia counsellors they met. 

 

She was puzzled at first to be told she carried haemoglobin D Punjab. Once she understood it was...

She was puzzled at first to be told she carried haemoglobin D Punjab. Once she understood it was...

Age at interview: 37
Sex: Female
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English translation, video and audio clips in Urdu'

To tell you the reality, when they said that 'you have D trait Punjabi', so because I'm not from the Punjab, not from the village, I thought people from the village can have such a problem. Because I'm not Punjabi. I'm not from Punjab. I was not so worried. I said that 'I can't have this', and anyway, I didn't have any problem. If I had some problem, or if the baby had something, like this one had [referring to younger daughter], then I was worried 'what has happened?' But when I read the information, it's not an illness, so why should I worry?

So what did you gain from the information about what this is?

This is not an illness. This is the greatest relaxation. This is not an illness, because my husband has normal haemoglobin and I have D trait. When one out of a couple has a normal haemoglobin and one has D trait, then there is no problem for the baby, even if he is D trait or has normal haemoglobin, then there is no illness. This is why I have no worry. 

Footnotes' people often need help in understanding the difference between being a carrier, which is not an illness and does not affect your health, and having the condition. It does not affect the baby's health if one or both parents carries haemoglobin D Punjab. However, if one parent carries haemoglobin D and the other carries haemoglobin s (sickle cell) the baby has a 1 in 4 risk of having a sickle cell disorder called haemoglobin SD disorder as this woman later learnt from her counsellor, the name 'D Punjab' can be misleading - it does not mean that only people from the Punjab can carry it. The word 'trait' is sometimes used to describe carrier status.

 

He was not really worried once he understood that being a carrier does not affect your own health.

He was not really worried once he understood that being a carrier does not affect your own health.

Age at interview: 29
Sex: Male
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Well I'm that kind of open-minded person, basically. I had, I didn't have much information about sickle cells anyway, because - well, I thought it's, I've heard some myths about it, anyway, that 'Oh, people who have sickle cells are so thin and stuff like that, lean, and they get sick every now and then.' But I, for some reason I've never read about it myself, so I thought it was - I didn't really know what it was, really. But it had some - the letter had some documents, you know, with it, so I read it, and then it gave me that kind of 'It doesn't really affect your general health', and stuff like that, so I was a bit comfortable with it. 

So we went for - and then they said about, they set the date when we had to come for the counselling and stuff like that. So, and basically... So before then, I thought it was a serious illness, or some kind of thing, but it happened not to be like that anyway, so'

You mean if you're discovered to be a carrier?

Yeah - if you're discovered to be a carrier it doesn't really, you know, affect your general health anyway, yeah.

Was it a shock, when you got the letter - it came in a letter did it?

Yeah, it did.

And was that a shock to get those results?

I wouldn't say a shock, but I- well, I didn't expect it anyway so' Well I can't really describe it. It wasn't really a shock. Somehow it was a shock, because I thought, you know, our health is okay. We don't have such kind of, you know, things. And so it wasn't really a big deal, anyway, yeah.

So you went along to the counselling not particularly worried or anxious?

No, no, not at all. I wasn't really worried, because they did explain a little bit about how it is, and it wasn't, you know, a major thing, so I wasn't really worried. And so we went for the counselling and I wasn't really worried.

Footnote' people often need help in understanding the difference between being a carrier, which is not an illness and does not affect your health, and having the condition.

Although most people who are carriers are generally in good health, there are some possible health effects they need to be aware of. There is a risk to sickle cell carriers of "sickling" under situations of very severe oxygen deprivation. Anaesthetics can cause problems. If you are a sickle cell carrier always notify your dentist or doctor before treatment starts to be on the safe side.“There is a small chance that you may experience pain at high altitudes (generally above 10,000 feet), including long-haul flying in unpressurised planes and mountain climbing. It is important you say you have sickle cell trait before undertaking such activities as you may need to breathe oxygen. Extreme exercise may also precipitate problems and if you are a professional athlete you should have a training programme that takes account of this.” (Sickle Cell Society Dec 2018). These problems do not apply to carriers of other unusual haemoglobins.

A few people who are beta thalassaemia carriers find they get tired and anaemic sometimes. This has no serious effect on the person's health, but it may help their doctor to know they are a carrier. Some women who are beta thalassaemia carriers become more anaemic when they get pregnant. 

Carriers of beta thalassaemia may need a special blood test (serum iron or serum ferritin test) to diagnose iron deficiency if this is a concern raised by their doctor. A normal blood test on someone who is a carrier of beta thalassaemia can look as if they have an iron deficiency when actually they don’t. If a doctor does not know that a person is a beta thalassaemia carrier they could prescribe iron medicines thinking it is iron deficiency when it is not which, in the long run, could do more harm than good. They should only take iron medicines if the serum iron or serum ferritin tests show a shortage of iron in the blood. (Local sickle cell and thalassaemia centres can provide more detailed advice on this topic.)

For these reasons, carriers are usually advised to carry a 'haemoglobinopathy' card to show to health professionals, stating that they are a carrier.

There are also some health advantages in being a carrier. Beta thalassaemia and sickle cell carriers have some protection against malaria, and there is some evidence that beta thalassaemia carriers have a lower risk of coronary heart disease.

See also sections on:

'Partner carrier screening'

'Newborn screening- the effect on parents'

'Awareness and understanding about the conditions'

'Communicating the results' 

For more information see the NHS sickle cell and thalassaemia (SCT) screening programme on GOV.UK.

Last reviewed December 2018.
Last updated
December 2018.

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