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Screening for sickle cell and beta thalassaemia

Advising people about their options

Most people we talked to felt very positive about the way they had been advised about their options in terms of diagnostic tests and continuing or ending the pregnancy. The discussions with specialist sickle cell and thalassaemia counsellors were particularly valued, even though the content was often distressing. 

 

Professional learning: The counsellor was very helpful. It was frightening to discuss termination...

Professional learning: The counsellor was very helpful. It was frightening to discuss termination...

Age at interview: 22
Sex: Female
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Well they, the lady went through all the, explained sort of like about all the red and white blood cells, and explained sort of in depth about it, and as I said before what would happen if me and [husband] were carriers, what would happen to the child. It would be very ill, and what the options were and everything. But she said, you know, we have to just wait and see really. But obviously if we both were carriers, she would have obviously set up some sort of counselling and what our options were and stuff, you know?

And even at that appointment she talked to you about?

Oh yeah, very in depth about it.

And about the possibility of termination?

Yeah, that's what really frightened me a lot.

Would you rather she hadn't mentioned it at that point?

Not really, because it frightens the life out of you, to be quite honest. Because it's all a big shock. You go there and you don't expect, you know, that to be as bad as what it is really. But I suppose they have to tell you to prepare you, really, for the worst.

Was there anything that, about the way that the information was given to you that you would like done differently, or were you happy with it?

No, she was a lovely lady and she did do it very well, but as I said it was a very big shock, the way she was just very direct and blunt about it, really. 
 

Inevitably counsellors face difficulties in judging how much information to give each individual couple at different stages. While this mother was reluctant to hear about termination, another couple felt they would have liked to know much more about this early on.

 

Professional learning: They would have liked more detail about what would be involved in a...

Professional learning: They would have liked more detail about what would be involved in a...

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Father' Well, I think, I thought the nurses at the beta sickle centre were fine. But I felt maybe, I don't what to do, but I think the two, the two weeks that I was waiting for my results, I felt if somebody could give us more support, I think - give us a call or, you know, saying, 'Are you okay?' and, do you know, talk, talk to us, yeah?

There seemed to be a lot of service for, you know, normal midwife and, you know, that sort of thing. But for, for people like me and [wife], with this particular condition, in that two weeks of waiting there was no - we felt there was no particular counselling, I think. I mean that was that aspect of it. And I mean, after I found out my result, I mean, it was very quickly after that we just - I found out the result on Monday, then we had the sort of taking the blood from the baby on Tuesday? Yeah? Tuesday. So it was kind of immediate sort of thing. So, you know, so we didn't need that much counselling because it just, it's quicker then. But even then I think, you know, if I was waiting for my result it would be better if somebody was saying, 'Look, don't worry about it. It was a very low chance' and things like that. And yeah, so maybe just a call, maybe from a professional, because, you know, because these are quite important matters, really and there wasn't much support in that sense.

And did you feel any kind of direction from the professionals about whether to terminate or not? Or did they leave it very neutral? And, and how was that, if it was very neutral?

Father' Yeah, they left it very - I think I tried to prod them in a way, and say, you know, 'If I have to go to termination, what, you know, what is the steps?' And I think they were talking about it. Yeah, they tried to be nice in a way, they tried not to go down that route obviously, and I can understand why. But in a way I want them to say, you know, if termination happens and this, you know, we need to give, we need to go to hospital and this happens, happens. The termination bit, I had to do all the research myself, really, and saying, you know, 'This, you know, what--?' In a way I had to force them to explain to me if I want a termination what would happen. So I think they were trying to be neutral, but in a way if the patients want to know, then they should give us the whole works rather than sort of shield away, you know, shield us away from the responsibility.

Where did you find information about termination?

Father' The NHS Direct. I just went to an abortion website and things like that, and...

Did you find Antenatal Results and Choices?

Father' Yeah, I think I did, yeah. I think I did, yeah, just reading round the subject. But again things like that are, you know, it's impersonal. I prefer somebody to phone and, and talk through with us, you know, what would happen and, you know, what the emotional impact on the woman would be and things like that. So I had, I mean, I went on like very sort of - do you know - the normal pregnancy website to understand it, but that's just very cosmetic information, rather than the sort of information that I want.

Unvarnished?

Father' Yeah, yeah.
 

Most people understood why staff try to be non-directive, but several people commented on how this made it feel a very lonely decision.

 

Professional learning: He never felt any pressure from staff over what they should do, but in...

Professional learning: He never felt any pressure from staff over what they should do, but in...

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Father' And, and my recollection is when we, when we got the letter it was, it was a sort of terrible shock because we weren't warned. We knew, we knew that obviously the blood test was, was, that it had taken place and, and the samples were being tested. 

But we got this letter. And things did move very quickly, didn't they? I mean that, you know, the next day the nurse was coming and I mean it was a, it was a very sort of confused night really, wasn't it? We were very nervous, because we knew the, you know, we knew what the odds were. And I think my recollection of going for, to the hospital to see the genetic specialist, it was very, it was very other-worldly. I remember sort of almost as she was talking to us about the testing and the results, it was almost as though she was talking to us and I was almost looking over my shoulder as to, 'Who is she talking to?' Because it felt so, I felt so detached from it. And I think, I never felt pressured that we should have, we should do any particular course. We, I never felt that we should have a CVS, although we were aware that the sort of the time limit was, was on us almost. They wouldn't be happy to do a CVS after a certain time. 

But the abiding feeling I had really, apart from feeling that it was almost, that we were, they weren't talking to us, was that you almost wish that somebody would help you and sort of say, 'Well, I think you should do this.' But of course they, they wouldn't, they wouldn't say either way, 'We think you should do this. We think you should do that.' And it was very, it was very difficult, wasn't it? I think it was just the two of us and we were agonising over things. And, just because of the timing of it all, we didn't - I mean it wasn't the hospital's fault - but we felt very pressured that we, we had to sort of make a decision, 'Should we have the test? Should we, should we not have the test?' 

And I think I was sort of quite firmly of the opinion that if a child had a condition such as Down's syndrome, as well as full-blown thalassaemia that it would be just too, it would be too much to inflict upon somebody. And we did have, and we did have terrible guilt about what we were doing. Even sort of continuing with the pregnancy, I think we felt that we'd made the decision almost for us that we wanted a child, but you know, the child didn't have any choice as to being born with such a condition. 
 

(See also further clips from Interview 15 in 'Deciding what to do after diagnosis').

One mother whose partner refused carrier screening during pregnancy felt it might have helped if the midwives had steered her more actively towards having diagnostic tests in pregnancy, or persuaded her to attend the specialist sickle cell centre. 

 

Professional learning: If the midwives had booked diagnostic tests for her in pregnancy she might...

Professional learning: If the midwives had booked diagnostic tests for her in pregnancy she might...

Age at interview: 21
Sex: Female
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Video and audio clips read by an actor.

You must have discussed the possibility of having a, like a CVS or an amniocentesis with the staff, the test to see if the baby's got it. Did you ever think briefly you might have it, or?

Yeah. Well, the lady talked about it, but then she never booked me an appointment. So...

Would you ever have thought about it, do you think if, if she'd been more...?

Yes, if she were more helpful probably, I think I would have done it. 

But because it was my first pregnancy I didn't know nothing. They just, when they send me an appointment letter and the date, that's when I'll go. If they don't do nothing, I'll just sit at home. I don't know what to do. 

Did you have specialist sickle cell counsellors?

Yeah, after, when I gave birth.

Ah, but not before?

No, not before.

So during pregnancy this was just the midwives?

Yeah.

OK. And how do you feel about the information that they gave you about carrier status and about the possibility of diagnostic testing? Was it well explained to you?

No, not really. Because I just got to know more about it when the specialist, when they found out that my son had it. That's when I got to know about it more. But then it was just like a little, little information pack.

I think if - I don't know, if they were a bit more trained or - not trained, but know a little bit about the sickle cell, that would be helpful to me, because they would have given me advice then, before. But because I think the lack of knowledge on sickle cell disease, so that's why probably they didn't know what to say to me. Because I was going there, everything seemed - they knew I had the trait. And the partner, they knew my partner didn't want to. But when I told them he didn't want to, they were like, “Okay, then.” That's it.

Did they ever offer to refer you to one of the specialist sickle cell counsellors at that stage?

Well, they gave me a number, a sickle cell centre number, to go to. But at that time I was thinking, “They're saying it's not a disease. Why should I need to go there?” at that time. So I was like, “Oh, I'm not going to go there.” So I never went.

On the other hand, some people who did not want further tests were pleased that their choice was respected and they were then left alone. One woman explained how her brother and sister-in-law felt staff had been too directive in persuading them to have CVS in their first pregnancy.

 

Professional learning: Her brother and sister-in-law felt pressured into having CVS and...

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Professional learning: Her brother and sister-in-law felt pressured into having CVS and...

Age at interview: 32
Sex: Female
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Sister-in-law' I was there when she actually went to get the screening [CVS] done in [city]. But before that that's all they were pressured into, 'Have the screening done. It's for your benefit.' And after that it was like, you know, 'It's, at least you'll find out, and you can abort the child.' Which they didn't believe in. As I say, I mean there wasn't much information given to the parents for them to actually make their own mind as to, 'Is it an option? Have we got an option? Or do we have to have the screening done?' At that time they thought they had to have the screening done. That's why they went and did it. But it was I think when time went by that they found out that it was just something if they didn't want to do it they had an option not to do it.
 

Views differed on whether the nature of the conditions had been presented fairly and accurately. Some people felt the information they were given focused mainly on all the problems and complications someone with the condition might face. They would have liked this to be balanced by more examples of how people can live fulfilling lives. Others felt they did not know enough about the problems they might face, especially stroke in sickle cell anaemia. 

 

Professional learning: She would have liked more positive examples of how people live with sickle...

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Professional learning: She would have liked more positive examples of how people live with sickle...

Age at interview: 41
Sex: Female
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I was well informed, but I always just have this in my head [laughs] that SS [sickle cell anaemia], all the SS I'd met at that time, you know, it's, “This is how they look like”, you know… Even if you look at the literature most of them, when they talk about sickle cell, they never talk about the fact that, “Oh, there's been some people that have lived a normal life”, you know. They will just talk about, “Oh, these are the things that can happen, you know - like pain, infection, stroke, kidney - all those things, all the things that might possibly happen are the things you read, basically, you know. So I… just had it in my head that, “Oh, SS is like this”, you know. So when I was even pregnant I just had this thing that, “Oh well, knowing that, I don't know how I'm going to cope.

I mean, although they gave me a choice, in a way I would have preferred that I was able to mention to people that, “Oh well, not everybody turns out this way”, you know, and to be a more positive side, to be honest. Because in a way my mind was presented with more of a negative side, basically, and that's what I had in my head, and that's the presentation they gave me. And my idea is that, “Okay, the child has SS. Maybe this is what I will do”, you know. And I didn't get so much positive thing about something good might happen out of it, basically.

Footnote' the symptoms and complications associated with sickle cell disorders vary from person to person, and it is impossible to predict how each individual will be affected.

 

Professional learning' She needed to know more about the risks of stroke with sickle cell anaemia...

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Professional learning' She needed to know more about the risks of stroke with sickle cell anaemia...

Age at interview: 37
Sex: Female
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Have you got messages for other parents on, based on your experiences? What would you say to people who are going through this now?

Oh, get as much as information. It's not a sin. Trouble them. Yeah, you understand? You want more information about it, because if you don't have information you don't know what to do, you don't know what you're putting yourself through. So you just need to get as much, as much, as plenty of information you need. It's very, very good. Yeah. Or else you are at risk, and you don't know you are at risk. Because I didn't know I was at risk. Now I am, now. Because there's not enough information and I didn't know the child can have a stroke. I didn't know. Now she have, and there's the chance she can have it again. So, we need more information to make our decision, yeah.

Footnote' stroke can be a complication in both sickle cell anaemia and less commonly in haemoglobin SC disorder.
 

One couple who were hoping to have preimplantation genetic diagnosis were shocked at the way beta thalassaemia major was presented to them in their first consultation at a clinic in Italy.

 

Professional learning: They were shocked that an Italian doctor told them living with beta...

Professional learning: They were shocked that an Italian doctor told them living with beta...

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Woman' The very first consultation we had in Italy, she said, “Oh well, if you tried and you were to have an unhealthy child, you've got, okay, only a twenty five per cent chance, one in four children will be unwell. But today there is not a problem. You just go to the hospital to have the blood transfusions every month, and that's it. It's like going to the snack bar and going to the pub and ordering a coffee.” That was very easy for her to say that….

Was her professional background as a haematologist?

Man' Yes, she was… And I've known that particular doctor for years, because she was just like a junior doctor, registrar, when she started well over thirty years ago, when my sister regularly had to attend that centre. And she knew me very well, as well. And to hear this sort of advice, it was something, I mean, shocking to say the least. In fact, I very rudely and impolitely said in some ways, I actually told her that what she was saying had very little to do with really advising and telling the real true facts - and very impolitely, very rudely, I do admit that, but that's what I felt, and said, “Well, you sound like someone that is just after looking after job protection for your post”, you know, because I was absolutely shocked. 

Apart from the fact that my sister only died a couple of years earlier, but having unfortunately had the experience of living for thirty years and more with what thalassaemia really is, to hear this sort of superficiality and, you know, blood transfusion just like you're going to the shops to have a cake, or a sweet, and all the rest. I mean, it was something which really shocked me, and to this day still affects me, and particularly does because when we were having the treatment in Italy, the fertility clinic is actually on the ground floor of the centre, and obviously I don't have particularly good memories of that place. But, leaving that aside, I was really shocked by the number of young couples and obviously young children, going in and out of the thalassaemia centre, because they were obviously affected by such a terrible disease. And particularly in the area where we come from, there is a really strong awareness of this, and the reduction of the incidence is only due to making people aware of that.

Footnote' The aim of the UK National Screening Programme is not to reduce incidence, but to offer timely antenatal sickle cell and beta thalassaemia screening and diagnosis to all women (and couples) to facilitate informed decision-making.

By contrast, another family had lost trust in medical diagnosis and treatment after seeing the experience of various family members, and this had influenced their feelings about whether it was worth having diagnostic tests in pregnancy. While some family members have beta thalassaemia major, and there have been deaths in the family as a result, others appear to have inherited a milder form of the condition.

 

Professional learning: They have experience of a family member who was diagnosed with beta...

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Professional learning: They have experience of a family member who was diagnosed with beta...

Age at interview: 32
Sex: Female
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This feeling in the family about not having a termination, is that, what's that based on? Is it more based on religion or just, just morals and ethics, your own morals and ethics? What's it, what's it based on?

Sister-in-law' It's not based on religion.

It's not religion?

Sister-in-law' No. It's not based on religion. I think, it's the way everybody feels in the family. But that's about it really. Religion, I don't feel religion comes into it. We don't think that far really. But as I says, I mean, they diagnosed as, my nephew as being a carrier and said that he'll need blood transfusion and everything. And he's 24, he's never needed a blood transfusion, and he's healthy and he's from Birmingham.

But he's a carrier?

Sister-in-law' That's what they said. I think that's what they said but, no, at first they says that he were a major, sorry, and then they did the test again and they says, 'Oh, no, no, no, he might just be a carrier, he might just be a carrier.' But before that they said that he'd need blood transfusions. And as I says he's 25 - yeah, 25 - and he's had no problems. So at the end of the day I mean doctors can make mistakes.

Footnote' It can sometimes be difficult to establish a clear diagnosis. Some people inherit a mild beta thalassaemia mutation, and they may have a form of the condition called beta thalassaemia intermedia. People with a very mild thalassaemia intermedia may not need regular blood transfusions. It is unclear in this case whether the individual was only a carrier or had a very mild form of the condition.
 

See also sections on:

'Deciding to have diagnostic tests'

'Reasons for deciding not to have diagnostic tests'

'Deciding what to do after diagnosis'

'Values and religious beliefs'

Last reviewed December 2018.

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