A-Z

Screening for sickle cell and beta thalassaemia

Reasons for deciding not to have diagnostic tests

If both parents discover they are carriers, there is a 1 in 4 chance their baby will have the condition. They can choose whether to have a diagnostic test to check if the baby is affected. No-one has to have these tests. It has to be a personal decision. See 'Deciding to have diagnostic tests' for the views of parents who decided they would like a test. 

However, some parents decide they would rather not know whether the baby has the condition before birth, especially if they feel strongly they would never terminate a pregnancy. One mother whose first baby was born with sickle cell anaemia explained why she did not want tests in her next pregnancy. (In her third pregnancy, when she moved to the UK, she was told she should have amniocentesis because of her age. She was wrongly made to feel it was compulsory).

 

In her second pregnancy, she had no diagnostic tests, because she wouldn't want to end the pregnancy. [La deuxième fois, elle n'a pas eu des tests diagnostiques, parce qu'elle n'aurait pas voulu arrêter la grossesse].

In her second pregnancy, she had no diagnostic tests, because she wouldn't want to end the pregnancy. [La deuxième fois, elle n'a pas eu des tests diagnostiques, parce qu'elle n'aurait pas voulu arrêter la grossesse].

Age at interview: 40
Sex: Female
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English translation:

With your first one, I don't think you'd do anything. Well, personally I wouldn't have done anything. Because being a carrier and having children, it's a lottery. And I'm living proof of the lottery of sickle cell. Because I've got one child, the first, who has sickle cell anaemia, the second is AS [sickle cell carrier] and the third is AA [not a carrier]. So you can't, you can't, it's true that all of a sudden it's difficult, but I think when you're having your first baby you can't allow yourself to, to take these big decisions. 

It's perhaps after the first, thinking about the second, in the situation where you live with the first child, and then perhaps you begin to ask yourself questions. Because the, the biggest decision, it's when the child is there or when you fall pregnant, and you have the test done to know if the child will be born with sickle cell or not. I think that the hardest thing is the decision to take afterwards. Because when it happens, okay, I'm pregnant, the child's born, he's got it or he hasn't got it. I haven't had to agonise over this decision. But when you know already that he's moving inside you, there's already contact with the mother, and then you find out the child is affected, what kind of decision are you going to make? 

It's really hard because at the same time the child's already there. The first one is ill. I love him very much. And with that one I don't know how it's going to be. And if I'm going to have to take a, a decision, basically that means that I'd have to end the pregnancy. So somebody who takes that decision to end a pregnancy, that's a sense of guilt that's there, that you're, you, you don't risk forgetting that straight away. So I believe it's very very hard. Thank God, I haven't had to take that decision. But I was afraid of it all the time. But for the two first ones, I didn't have to do that. It was when I was here that I think because of, because of my age I did that. But it was very agonising.

Footnote' This mother had one baby with the condition, one who was a carrier and one who was unaffected. However, the 1 in 4 risk of having a baby with the condition remains the same in each pregnancy. Just because a couple already has one child with the condition, this does not mean their next child will be unaffected. Each child could be affected.

French original:

Pour le premier, je crois qu’on ne fait rien. En fait, personnellement je n’aurais rien fait, parce que être porteur et avoir des enfants c’est la lotterie. Et moi je suis la partie même vivante de la lotterie de la drépanocytose, parce que j’ai eu un enfant, le premier qui est SS, le deuxième qui est AS et la troisième qui est AA.  Donc, on peut pas, on peut pas – c’est vrai que sur le coup c’est difficile, mais je crois qu’avec un premier enfant on ne peut pas se permettre de prendre des grandes décisions.  C’est peut-être après le premier ou voir le deuxième, la situation dans laquelle on vit avec le premier et là on se pose des questions, parce que la plus grande décision c’est quand l’enfant est là ou que l’on tombe enceinte, et que l’on fait ce test pour savoir si l’enfant va naître avec la drépanocytose ou pas.  Moi je pense que le plus dur c’est la décision à prendre après.  Parce que quand tu viens – bon, je suis enceinte, il naît, il l’a, il ne l’a pas, j’ai pas eu à me casser la tête. Mais quand on sait déjà qu’il bouge là-dedans, il y a déjà quand-même le contact avec la maman, et après l’enfant il est atteint, qu’est-ce-que vous allez prendre comme décision ?  

C’est dur parce qu’en même temps il est là. C’est le premier qui est malade, je l’aime bien et celui là je ne sais pas comment ça va être, et si je dois prendre une décision donc ça veut dire qu’il faut arrêter la grossesse. Donc qui dit arrêter la grossesse il y a une culpabilité qui est là, qu’on ne risque pas d’oublier tout de suite. Donc je crois que c’est très très dur.  Dieu merci je n’ai pas eu à prendre cette décision, mais j’appréhendais ça toujours. Mais les deux premiers je n’ai pas eu a faire ça. C’est quand je suis ici je crois que par rapport au – c’est plus par rapport à l’âge, j’ai fait ça, mais c’était très angoissant.

 

Religious beliefs influenced many people in deciding not to have any further tests. 

 

She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her...

She felt strongly as a Christian that she did not want any diagnostic tests, and has faith her...

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You didn't go to see the counsellor at all then?

No.

So it's just your husband went?

Yes, he went just once. 

And how did he feed back what he'd heard?

[Laughs] He brought some drawings and some, some lines. He wanted to show it to me. I was like, no need. There's no need, because [pause] when I see that, that means I'm accepting that's what - I respect their views, yes, that medical science has said, 'Oh yes you have a, you're a sickle cell trait carrier.' Yeah, I respect medical science, but God every time has, has shocked medical science, you know? So I'm not ready to now look at the paper and say, 'Oh, OK, this is how it happened.' Uh-uh. It didn't happen like that. God gave me the baby, and God is going to help me deliver the baby, and the baby's going to come out well. You know, I feel it every day, you know? And I know before I started, before I got pregnant, I know - you know when you're praying for your baby? 

You know the kind of baby you want. The bible says whatever you ask He gives. And I believe that strongly, because by faith so many things have happened to me. By faith I came to this country to do my masters. By faith I got the visa. By faith I got my job. By faith I got my papers to stay here. By faith I got this council flat, because of the baby. By faith so many things, you know? And I just know it, the baby's blessed, because the baby's opened so many doors for us. So it's, I think basically it's just faith. Faith in knowing who I'm carrying, and who I'm serving, so.

So did you kind of even begin to look at the drawings and think, you know the'

No 

..the one in four this and the?

I never looked at it. I just knew I just saw some lines [laugh]. I never looked at what, I just saw lines. It was like, 'Oh. Just keep it there.'

What about your husband? How did he feel about it?

Just at first, the first day when he went for the, I think he went for a consultation, and they talked to him and everything. But when he came home all I had to do, when he wanted to talk, I was like, 'No. We know the God we serve.' You know, the bible says a woman's faith carries her husband, because if you have a good wife you'll be blessed, as in financially and everything. So it's always the woman that has to be the stronger one, faith-wise. So I'm like, 'Look, this is what it is. This is the God we serve. We should remember where we're coming from.' And he was like, 'You're right, you know.' And that's how we dismissed it. And we've never spoken about it till today.

[Laugh] So it sort of maybe crossed his mind to have testing, you think?

No. Since that first - the first time, yes. Everybody's human. The first time he was like, 'Should we?' I'm like, 'No.' It never crossed my mind, never, ever, ever, ever.

So you didn't get as far as thinking about the risks of the, you know, because it could cause a miscarriage if you had those tests?

I didn't even think about. I didn't even read their booklet [laugh]. It was when I was packing my stuff, I was arranging the stuff on the table and I saw the booklet. I was like, 'Oh my goodness. That was bad of me, I never read it.' I threw it away two days ago or something. I never read their booklet.

A Muslim couple who already had a son with beta thalassaemia major were told their second baby could provide a donor match for their son to have a bone marrow transplant to cure him, but there was also a risk the second baby would have the condition. (See 'Living with beta thalassaemia major and intermedia). They decided to have no screening for the new baby, and the mother said:

“I didn't get pregnant to cure my son, I left everything in the hands of Allah. Whatever Allah is happy with, I am happy with.”

However, some people with religious beliefs did not feel this prevented them from considering prenatal tests and even possibly termination.

A Muslim family described religion as part of their thinking, but they were also influenced by their lack of trust in medical diagnosis and treatment. The mother had tests in her first pregnancy but regretted this and had no testing in any other pregnancies. She felt termination would be a sin, and is glad to have her daughter who has beta thalassaemia major.

 

Although she had CVS in her first pregnancy she knew she would not terminate. In her other...

Although she had CVS in her first pregnancy she knew she would not terminate. In her other...

Age at interview: 32
Sex: Female
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English translation, audio clip in Mirpuri.

We said that we would not have termination. We thought that we will get checked, and we'll know, but we will not have a termination. Even if we get checked, we would not terminate.

Okay.

At least it will come into the world. Okay, it will see whatever life it has with its mother and father.

Okay. So then you had your daughter with thalassaemia.

Yes.

After that, why didn't you have tests for your other children?

I didn't have the test because there wasn't any point in getting checked, because neither did we want to have a termination and neither did we think there was any point. Now there was no point in me getting my daughter tests. 

And did you clearly say no each time?

Yes, each time.

And then when your children were born, when you were pregnant, what feelings did you have, during pregnancy, about thalassaemia? 'What will happen if the child has it?'

I left it to Allah. I was dependent on the beautiful Allah, that Allah will do whatever. The individual cannot do anything.
 

 

She is glad their daughter who has beta thalassaemia major was born and that they did not agree...

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She is glad their daughter who has beta thalassaemia major was born and that they did not agree...

Age at interview: 32
Sex: Female
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English translation, audio clip in Mirpuri.

Okay. And you said that your husband didn't agree initially anyway [to antenatal diagnosis]?

Yes. He didn't agree initially. When he talks, he says 'we have three sons now'. Now we have finished. Allah give them life, they are enough, and he says 'if we had terminated, how would we have seen our daughter'.

What do you mean?

If we had terminated by listening to others, if we'd have terminated, then we wouldn't have our daughter. He says, 'Okay, our daughter is troubled, but Allah has given her these troubles, and at least she is in front of our eyes. We don't have to regret that we terminated her or something happened. At least she is in front of our eyes.'

And when your daughter asks you 'why do I have this', what are your feelings?

I feel that, look there are others as well. Whatever Allah wanted, then this is okay.
 

Her sister-in-law explained that their lack of trust in medical services had been influenced by the experience of other family members, including one who had initially been diagnosed with beta thalassaemia major but has since seemed healthy. (Beta thalassaemia major, a severe and life-threatening anaemia, is the most common form of the condition, but there are other forms including beta thalassaemia intermedia, which may be milder but which are not always straightforward to diagnose. People with a very mild form may not need regular blood transfusions. See 'Living with beta thalassaemia major and intermedia' for more about the nature of the conditions). 

Attitudes to diagnostic tests in pregnancy do sometimes change in the light of experience. A number of parents who had tests in previous pregnancies but now had a child with the condition decided not to have tests in future pregnancies. Having experience of parenthood made some people feel differently.

 

They might consider testing again for other conditions such as Down's syndrome but not for beta...

They might consider testing again for other conditions such as Down's syndrome but not for beta...

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Going back to thinking about your, your decision-making and, and your attitudes to termination and living with disability was religion any part in your thinking, at a different level of moral discussions?

Father' I don't think either of us would put any religious barrier to, to considering it. No, I don't, I think really, the real crux of it, I think, was - and I think it was, it was my idea that we - we'd always said, 'Don't bother testing for anything.' But once we had to have the thalassaemia, we decided to go for the thalassaemia test, I said, 'Well, we should test for everything' in case, in case the odds then stacked up and made the child's life so potentially unpleasant, as it were, you know, difficult.

Mother' But we said all that in theory. Whether or not we would have, if we had been faced with a combination of problems, whether or not we would have done anything in practice you can't say now with the benefit of hindsight. But all I can say is now I would be much more certain in the future that I wouldn't. I can't say that I wouldn't opt for the screening, because once you've had the screening and you know the outcome then you can arm yourself, educate yourself as to what you are potentially facing. I mean, I would say that the, you know, the old saying of, 'A little knowledge is a dangerous thing' is very true because, you know, you can absolutely drive yourself crazy by things that you will read. And you need to make sure that the education that you're giving yourself or you're being told is actually the best information, the most up-to-date medical information that you - scientific research et cetera - that can be given to you. 

And if it were just to look for confirmation of thalassaemia?

Mother' Wouldn't bother.

Father' No.

Mother' Wouldn't bother. But having said that, we know that any other child we have is not going to be any more badly affected than, than our child is now. And so, you know, touch wood we've got through the first x number of months without transfusions et cetera et cetera. So if that, if that's effectively guaranteed for, for another child, which we've been assured it would be, then no, I certainly wouldn't have any screening for thalassaemia again.

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. This couple's baby has remained healthy, which was not as predicted.

 

The decisions you make in a first pregnancy may be different to those you make once you know what...

The decisions you make in a first pregnancy may be different to those you make once you know what...

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Mother' I think the other thing is that the baby was our first child, and you don't know how you're going to feel as a parent until you have a, your baby in your arms. And what I would say now is that, if I have more children, I know how it feels to be a mother now. And the decision that you may consider making as a first-time parent or as a prospective first-time parent I think could be very different to a condition, a decision that you make with subsequent pregnancies, with subsequent children. Because you, it's not until you have a child that you experience the joy of having that child, and the pain - because there's obviously the pain that goes with, with parenthood. And it's not physical pain as well, but it's, you know, it's a desire to do the best for your child, and look after it and for it to have the best in life. 

A mother whose baby was diagnosed after birth with sickle cell disorder also decided not to have tests in her next pregnancy.

 

Now she has a son with SC disorder, she decided to have no tests in her current pregnancy because...

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Now she has a son with SC disorder, she decided to have no tests in her current pregnancy because...

Age at interview: 35
Sex: Female
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And this time around how have you felt, approaching the pregnancy, and thinking about testing? Did you think about whether you'd have the baby tested?

No, because there really wouldn't be any point. Because it's either you say you want a child, or you don't want a child because it could be SC [have haemoglobin SC disorder] or whatever. And I think because we've gone through this experience with my son, and I know it's not such a bad, it's not that bad, so, you know, I just pray for the best really.

Did you have counselling fairly early on in the pregnancy?

Well they, they did send me letters whether I wanted to come and talk about it and everything and I just said no, because I think I have enough experience of it already. I didn't really need any kind of counselling, because even if - I'm not praying for it but even if this child is SC I wouldn't say, "Oh no, I'm not having that baby". So there's no point in even doing any kind of tests or anything, so I'm just happy with what God's going to give me.

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. 

However, another mother decided not to have tests in her third pregnancy and was shocked when the baby was born with sickle cell anaemia. 

 

When she decided not to have CVS in her third pregnancy, she feels she did not know enough about...

When she decided not to have CVS in her third pregnancy, she feels she did not know enough about...

Age at interview: 37
Sex: Female
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Yeah. Two months ago. Yeah, she had a stroke, and she survived it. Yeah. She had a stroke and I don't know that SS [sickle cell anaemia] is more - I know SS is serious, but I don't know how serious it is than SC [haemoglobin SC disorder]. So at the surgery the doctor said SS they can, they can have stroke, it's, it's the, it's the disease. They can have stroke. But SC they can't have stroke. So she had stroke about two months ago and she survived it. So that's why I said it. And she have to be going for transfusion, blood transfusion, every four weeks for the rest of her life. So that's why I said if, if at all I'm pregnant, which I'm not planning, I would do the CVS test.

Footnote' SC disorder is usually less severe than sickle cell anaemia, although it is still possible that people with SC disorder can have a stroke and other quite severe symptoms.

The question of how professionals inform and counsel people when they have to make decisions is discussed further in 'Advising people about their options.' See also 'Deciding to have diagnostic tests' and 'Values and religious beliefs'.

Last reviewed December 2018.

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