Screening for sickle cell and beta thalassaemia

Continuing with an affected or at risk pregnancy

For many people, antenatal diagnostic testing will reassure them that their baby does not have the condition and they can relax and enjoy the rest of pregnancy. But for people who are told their baby does have a sickle cell disorder or beta thalassaemia major and decide to keep the baby, the rest of pregnancy can be an anxious time. Parents may worry about how they will cope, as well as what life will be like for their child.

She tried to enjoy the rest of pregnancy but it wasn't always easy. Her partner felt guilty...

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Mother' Well, it's, I mean it was, it was always at the back of your mind. And it probably wasn't even really much at the back of your mind, it was at the front of your mind, because we knew that once the baby had been born, he would need to see a consultant and they would start testing et cetera. And then, you know, we were sort of told, 'Well, it could be as young as 3 months that the transfusions might need to start' et cetera et cetera.

So I think we sort of, once we'd had the CVS and we'd got the results, we then saw a lot of people. Saw the consultant several times, saw a psychologist, saw the haemoglobinopathy nurse again, read lots of information about the condition et cetera. And then once we'd done all that we just thought, 'Right, we've done as much as we can do. Let's just try and get on with enjoying the rest of the pregnancy and getting ready to have, you know, your first baby, which is a very special time.' And I think that once we'd armed ourselves with as much information as we could do, you then think, 'Well, you can't do any more until the baby comes, until you can see how the baby presents et cetera.' So you have to almost shut it off as much as you can, and just concentrate on the more pleasurable side of it and getting all the stuff ready and all that sort of thing, don't you?

Father' I think so. I don't, I think you probably enjoyed that side much more than me. I mean I --

Mother' Yes, because I'm, I'm a woman and, you know, you get to go shopping for Babygros and all that sort of thing. And I'd love it, I loved it.

Father' I, I mean I did, I sort of felt, I felt quite guilty after that. And it, that didn't go away. I felt, I almost didn't, you know, I kept imagining what I would, you know, one day I'd have to explain to him why we'd, you know, potentially sort of consigned him to a lifetime of health problems. And I did feel very guilty about that. And you sort of hear about things, such as you can, you can take a tablet and this will help with the iron therapy, rather than these overnight injections into the, into the abdomen which take twelve hours on a pump.

And then you'd read that they, the Canadian tests had been a washout and it wasn't likely to be a success. And I did feel very guilty. I sort of hated the thought of, of sort of having to hook up a baby at the age of 2 to a, to a pump every night and, you know, tape it on to his stomach. And I felt, I felt very, I felt very down about that. It, it wasn't, it's a bit like waiting for exams to come up almost, you know. You, you know they're coming but it seems, it seems a long way away. And, but there was nothing you could do about it. And I did feel it weighed quite heavily.

They worried about how they'd manage transfusions and chelation [iron removal] therapy but she...

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Father' I mean perhaps I, I thought, 'What, what will happen next? What, you know, what's the next bombshell?' I did, I did feel, I did feel quite down about things for, for quite a long time afterwards, because you just don't know how, you know, you don't know how bad the health problems will be. And I don't know if - I don't think I didn't feel ready to deal with it, but I was, I was, in a way I was dreading having to deal with it, to a large extent. I was dreading all the hospital appointments and things like that. Not that the actually going to hospital and all that bothered me. But I just sort of foresaw this baby crying with yet another needle going in.

And I mean the thalassaemia website, the actual front page of it is a baby sat down in a nappy with a drip, with a, with a transfusion bag. And it almost, it does sort of reinforce that feeling, you know, because it says, 'Tired for life.' And you think, 'Oh, God', you know. So I did feel that quite a lot and it did take away, I suppose, a lot of the natural enjoyment of, of going through a pregnancy.

Mother' But, but then I think, you know, if you look at us as characters, you're quite sort of 'glass is half-empty', I'm quite 'glass is half-full' anyhow.

Father' Yeah.

Mother' And that, that obviously reflects how you deal with things and how you think about things. I mean, I certainly didn't ever think that our baby would be as well as he is and the condition would be so dormant, if that's the right word, or so unobtrusive. And I was scared and apprehensive about dealing with the practical side of it and the physical side of it and, you know, whether or not I'd be any good at, you know, sticking the, putting the sort of therapy in, the drug therapy and sorting all of that. And I was worried about all that.

But you have to deal with these things in life and, you know, I just thought, 'Well, we will cope and we, you know, we are together and we've got a strong relationship.' And there wasn't any suggestion that, you know, one of us would be coping on our own. So you get a great deal of comfort from that. And, you know, we have got families who are supportive. It might be in their own way, but they are supportive. And, yes, I think you just think, 'Well, this is the cards that we've been dealt' and you have to deal with them.

In some cases, parents said they might have preferred not to know the diagnosis in pregnancy, because it made them so anxious. One woman explained what it was like for her brother and sister-in-law, particularly as they had experience of other family members dying from beta thalassaemia major.

It was very stressful knowing in pregnancy that the baby had beta thalassaemia major, especially...

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It was very stressful knowing in pregnancy that the baby had beta thalassaemia major, especially...

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Age at interview: 32

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Sister-in-law' Because finding out that there might be something wrong with the baby, keeping in mind they were aware that we'd already lost a brother and we had to - that were thalassaemic anyway - I think they went through more stress within the next nine months knowing there might be something wrong with the baby, or it might be a carrier or a major, than not knowing. They wouldn't have stressed. So that makes it worse. Because he was told that, 'Oh, right, it's, I think that, you know, she might need blood transfusions' blah-di-blah. So with him, he had all these flashbacks of what he's already been through with my brother. So that's even more stressful. Especially knowing that a member of, you know, that they've lost a member of their family. She's lost a member of her family, but the difference there is she wasn't aware that she had thalassaemia. Whereas we went through so many years and we lost our brother. So that I think, they both went through this depression phase and it was very, very hard on them, because they were told that she's going to go through exactly what my brother went through. Which was very, very hard. You've lost one, you don't want to lose anyone else.

Some people who did not have antenatal diagnosis but knew they were carriers agreed that if they would not consider a termination it was better not to know.

She would not want to know in pregnancy if her baby had a sickle cell disorder, because it would...

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Then another thing is even if you do the screening and you see you have a sickle cell baby you're now in a very difficult position. What are you going to do? You start to think, 'Should I? Should I?' I think they - I don't know whether they call it abort or D&C. 'Should I do that to the baby? Or should I have the baby?' You're not even happy in the later part of your pregnancy. So you're not happy and you're carrying the baby.

Then you have the baby. Then the stress comes. You've had the stress throughout the later part of your pregnancy, then the stress continues. No, no, I'd prefer you not to go. If you want to, the choice is yours, but the screening I think is really uncalled for, because they put you in a very tight position. Just believe that your baby is sound. That's it. But if you have a sickle cell baby the bible says God won't give you a burden you can't carry. He always gives you something you can carry. If you have a sickle cell baby by chance, let it be at the end - see the baby at the, when you've given birth, at delivery point. Do not check before then. But it's still your choice [laughs]. It's still your choice.

Personally she was glad she did not know before birth that her baby had SC disorder, because she...

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Personally she was glad she did not know before birth that her baby had SC disorder, because she...

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Age at interview: 33

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As I told you, I had my own problems that I was dealing with. So maybe they gave me much information but, you know, I felt the problem I had was much bigger than that kind of thing. And also I was thinking, 'Well, my child is unborn, you know. I'm still pregnant, and how could I...?' So I was hoping that everything would be okay. So I didn't give it much of a thought till after the birth of the baby. And then the same person called me again. It was then that I realised, no, there's a problem with my baby also.

Looking back, would you actually have liked to know before birth that your baby was affected? Would that have been good for preparing yourself or would it just have made you anxious?

Well, in my condition, I think it's good I knew after birth. Because as I was saying, I had my own problems that I was dealing with at that time. So it's good I knew. By then I had been able to deal with my own problems, you know. Getting to know it whilst I was also dealing with my problems, I think that would have been devastating, you know - very bad for me. So I think - well, I think it's better for parents to know before they have the baby, yeah. I think that's a good thing. So that you have the choice of, you know, whether continuing the pregnancy or...

However, other people who knew that their baby might be affected but were not tested found the uncertainty quite stressful. One mother thought she might give up the baby for adoption if it was born with sickle cell anaemia, but she felt very differently after the birth.

She decided not to have antenatal diagnosis because she didn't want to feel stressed during...

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Age at interview: 21

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She made another appointment for me to go if I wanted, if I wanted them to screen the baby and see if the baby had it. But at that time I didn't want to know, because I didn't want to be stressy or - because if he had it, if I knew it from when he was in my stomach, it wouldn't make a difference for me.

Did you feel anxious anyway because of the uncertainty in the rest of the pregnancy?

Yeah, I did.

What was that like?

Well, it was like, “Ooh.” I just worried for, I don't know, for so many stuff - how I would cope? How life would be? And so on. So if - because I didn't know the child was sickle cell, but just worried, “If he is, how will he be? I'm on my own, how am I going to cope?” Because like I'm really feeling sorry for the unborn baby than myself.

She discovered her partner was a carrier late in her third pregnancy. She planned to have the...

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Age at interview: 36

Sex: Female

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So with your, your second child who was the, the your second son, did you have any testing?

Not at all.

And your partner wasn't screened?

He wasn't, not at that point, no. Because I've always believed what he said to me [laughs]. I took his word for it. But with my daughter I had an infection in pregnancy and he had to be treated as well, so I talked him into taking some other tests, and he took it right there at the hospital. That's when I realised that he's got, he has a trait, the sickle cell trait. And at that point I went to the hospital to talk about it, counselling. You go for the counselling, you talk about it, and [pause] because I had people in my family that have had sickle cell, I've seen the way some of them cope. I've seen the way some of them couldn't really cope - have had stroke, have died. I wasn't really prepared to be lumbered with a child with sickle cell. I decided then, during the pregnancy, that if the child was sickle cell, that I was going to give the child up for adoption.

But then, I mean, I couldn't deal with the fact that I had a child growing inside me for nine months - by the time I had my baby, even though she was diagnosed with sickle cell, I not in a million years wanted to part with her. And she's, well, she's a girl as well - I've had two boys, so. I had to go through the counselling. I was given information about it, I was told how to manage it, and to deal with it, and I took it a step at a time, and touch wood, thank God, she's a very healthy girl. She's never had any crisis, she's never had any disturbances through sickle cell. She's as healthy as my other two kids.