A-Z

Screening for sickle cell and beta thalassaemia

Seeing other family members/friends' experiences

Some people we talked to had seen other family members or friends with a sickle cell disorder or beta thalassaemia major, and described how this had affected their views. As a result, some people felt familiar with the condition, and confident that it was something they could deal with. Others worried they would not want to see their child go through the same experience.

Sickle cell disorders

 

Having seen family and friends with sickle cell anaemia, she felt if her child had the condition...

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Having seen family and friends with sickle cell anaemia, she felt if her child had the condition...

Age at interview: 24
Sex: Female
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And on the other side what kind of impact was your personal knowledge of the condition having on your thinking?

Yeah, I think it helped a lot, because I never saw sickle cell as a big deal. The only time I really feel the pain is when they're having the crisis, and once it's gone they're back to normal. Then back in Africa you see something as little as malaria killing off people, and when you see someone with the disease living for up to forty, fifty, sixty years, so, it's just the way you take care of yourself and you have supportive family and friends there, so. It wasn't a big deal to me, it wasn't at all, because of I've lived around people, I have a friend that has got the disease and she had a baby last year, and so she's fine, she's fine, she's doing well.

Except you were also saying that at some points in your thinking you were thinking you didn't want your baby to go through that'

I, no.

having seen it?

Not at all, not at all, but I knew if I had a child with the disease I could take care of it. So, I was prepared, I was prepared. But it was just the problem of my partner. He wasn't really ready, because he said he can't handle seeing his child going through such pain, and that was it. It's not like he was discriminating against sickle cell or anything, but he's this kind of person who doesn't like to show emotions, and so, and he doesn't know how to deal with it, so he would rather not have a child like that.

One woman had once split up from a boyfriend after she discovered he had sickle cell anaemia. Now that her own daughter has the condition she feels differently, yet would not feel able to cope with a second child with sickle cell anaemia.

 

She parted from a boyfriend who had sickle cell anaemia, but has regretted this now she has a...

She parted from a boyfriend who had sickle cell anaemia, but has regretted this now she has a...

Age at interview: 36
Sex: Female
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Has your experience with your daughter changed your perception of the condition, compared to what you knew about it at that point?

Well, yes. Because right from being a teenager, I've always been educated about these kind of things, and I lost a very good relationship just because the chap was, had sickle cell. I didn't want to know him, as soon as I realised that he had sickle cell. And when I had my daughter and she turned out to be sickle cell, it changed my perspective entirely, and I had to write letters, apologising, looking for phone numbers to communicate with this guy, to really really talk to him, because I now saw the condition in a different way.

When you split up from him was that partly because you were thinking, 'I wouldn't want to have children with someone with'...?

Sickle cell.

Right.

Yes.

Would you feel any differently about that now?

I will. I will, definitely. [pause] Because as much as possible I don't shy away from the fact that my daughter has sickle cell. Anybody that works with her, any close friends I have, they need to know that my daughter has sickle cell, in order to know how to deal with it. Well, my, one of my friends made a statement and I broke up with that friend just because of that.

What did she say?

Well, we were just making jokes. She had boys, and one of her boys is very fond of my daughter from when she was a baby, so we just make jokes like, she makes the joke that, 'What are you trying to do? Oh, you're [daughter's] boyfriend now, since you look after her so much, who knows?' And she - no, somebody said that. And she's going on like, 'Never, that my daughter - my son would never marry her, because.' And that was it. And that was it. I mean, how insensitive can somebody you called your friend be? And that was it, that was the end of the friendship up until now. So '

People's experience of seeing friends or family with sickle cell disorders sometimes made them fearful of having a child with the condition. One mother felt it would be better for a couple who are both carriers to separate rather than have a child who would be in a lot of pain like her friend's son.

 

She has a friend with a son with sickle cell anaemia. It's better to separate if both parents are...

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She has a friend with a son with sickle cell anaemia. It's better to separate if both parents are...

Age at interview: 31
Sex: Female
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English translation:

If it's possible - I know it's a difficult decision - but if it's possible it's better to separate. That's what I think, to give our children a better life. Because it's painful to see a child, to live with a child, in fact to watch your child suffer every day. Like I was saying about my friend, I see all the time, as soon as the child is there, you have to keep asking, 'Are you feeling ill? What's wrong?' Is it your chest? Is it...?' It's not easy, it's a difficult experience. Sometimes they even have to sleep in separate bedrooms, because one child is ill all the time and his brother is traumatised, his brother can't sleep at night when the other one is crying, so mum and dad have to sleep in separate rooms. Dad sleeps with the older one, and mum sleeps with the one who's ill. It doesn't create harmony, so it's not a good atmosphere in the family. 

So if it's possible, it's better to separate and for everyone to take precautions. That's to say, as soon as you find someone to go out with, you should ask him to get tested before you go any further. If I'd known I was AS [sickle cell carrier] before I got married, I would have made my husband have the test, even before we got married. You need to know.

French original:

Oui. Si c’est possible - je sais que c’est une décision difficile - mais si il est possible, c’est mieux qu’on se sépare, c’est mieux de séparer. Moi c’est ce que je trouve, pour donner une meilleure vie à nos enfants. En fait nous - parce que ça fait de la peine de voir, de vivre avec un enfant, en fait de voir ton enfant souffrir tous les jours. Comme je venais de vous parler de ma copine, je vois tout le temps quand, dès que l’enfant est là il faut lui demander, ‘Est-ce que tu as mal? Qu’est-ce qui fait mal? Est-ce que c’est le chest ? Est-ce que c’est...?’ Ce n’est pas facile, c’est une expérience difficile. Il arrive même des moments où ils se séparent de chambres, parce que comme l’autre enfant est tout le temps malade, et son frère est traumatisé, son frère ne peut pas dormir la nuit quand l’autre pleure, donc papa et maman sont obligés de séparer les chambres. Papa dort avec l’autre, le plus grand, et maman dort avec celui qui est malade. Ça ne fait pas l’harmonie, et puis ce n’est pas une bonne ambience dans la famille. Donc s’il est possible, c’est mieux qu’on se sépare, et que chacun prenne des précautions, c’est-à-dire que, une fois, si tu trouve quelqu’un d’autre il faut lui demander de faire des tests avant d’aller plus loin, pour savoir ce qui vient. Moi si j’avais su que j’étais AS avant de me marier, j’aurais obligé mon mari à faire le tests, avant qu’on se marie même, on allait déjà savoir.
 

Beta thalassaemia major and intermedia
Some people also had experience of friends or relatives affected by beta thalassaemia major. One family had several members with the condition, including some who had died as a result, but they were adamant that they would never consider termination (see Interview 24). One young boy in the family was hurt to be called Dracula by other children at school, because he was having blood transfusions. Another brother died after a series of complications, including diabetic coma, heart problems and kidney and liver failure. But the family felt poor care was partly to blame. They mistrust medical diagnosis, partly because a number of family members seem to have a milder form of the condition. (See 'Living with beta thalassaemia major and intermedia' for more information about different types of beta thalassaemia and difficulties in diagnosis).

A woman who had a son with beta thalassaemia major talked about another boy locally who had died of the condition after postponing one of his blood transfusions by only a week. She advised other women to have a termination rather than watch their child suffer.

 

She knew a boy locally with beta thalassaemia major who postponed his blood transfusion for a...

She knew a boy locally with beta thalassaemia major who postponed his blood transfusion for a...

Age at interview: 31
Sex: Female
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English Translation, video and audio clips read by an actor in Mirpuri.

My message is just that, whoever they explain to, I mean if they have to explain to somebody, that it's nothing to have a miscarriage [termination] within eleven weeks. Rather than every day… There was a child [called name], you may have heard about him, Mashallah, he was nineteen years old. Now, I mean, Allah has written life and death. Death doesn't forget you. What happened with him was that he was going for a blood transfusion, and his mother said, 'Go for blood' - he'd grown up now and he used to get it himself - and his mother said, 'Go get a blood transfusion' and he said, 'Mummy, it's my birthday this week, I'm not going, I mean for (a few unclear words), next week.' 

He went for a check next week, and parked his car outside the [hospital] and his blood was a lot lower, much lower, because he needed blood transfusions after four weeks, and it was five weeks. Then he shut his car door. When he got out, he felt dizzy and fell there. They took him in and he died. Okay, that's how much life he had, but his mother won't forget him. It will never leave his mother's head that 'My child was late by one week.' Rather than this stress from thinking, it is better, there's nothing [wrong] with having a miscarriage [termination] within eleven weeks. It's nothing.

Footnote' The mother in this interview used the English word 'miscarriage'. However, it was clear from the interview that she was using this term to mean an early surgical termination. She distinguished between this and termination later in pregnancy by induced labour, which would not have been acceptable to her.

Another couple who are both beta thalassaemia carriers had decided they would prefer pre-implantation genetic diagnosis rather than risk having a baby with beta thalassaemia major. Their views were influenced by the husband's experiences of seeing his sister living with beta thalassaemia major, as well as losing two brothers to the condition when they were very young.

 

He lost two brothers to beta thalassaemia major, and a sister who died aged 30. She had a...

He lost two brothers to beta thalassaemia major, and a sister who died aged 30. She had a...

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Video and audio clips read by actors.

I mean, what was it like growing up with a sister with thalassaemia? How did it affect family life?

Man' Oh, in every respect, in every respect it was what really dictated most of everything. And we were the first four - well, living at that time there were three brothers. And when she was born - my parents had two younger brothers, who were definitely affected by thalassaemia, who died when they were just about two. An earlier brother of mine died when he was - of polio. And that was the third brother. He died when he was just over a year of polio, so something unrelated. And then there were two brothers that were affected by thalassaemia and died when they were just a couple of years old. And then my sister, she was the first female in the family, and she was obviously affected by thalassaemia. 

I remember I was thirteen, fourteen at the time… At the time these cases were starting to be treated somehow, because before, just like my younger brothers, they basically died. They tried to give them blood transfusion at the end, but there was nothing really that they could do. And she started to have blood transfusions when she was not even four years, three years and a half, until she died nine days short of her thirty-first birthday. 

And everything - I mean, it's affected all of us and all the family, despite she had the most wonderful and fulfilling life, because she worked as a social assistant and social worker and so on. But what it really meant, apart from us, was for her. The sufferings, the constriction, are something that unless you live them - and when you're living them you also live the experience of the ones that are in the same boat. And there were many. And their problems and their concerns and worries, they were, how shall I say, in a way shared in common. Because it was obviously very easy to relate to them. When you live it day-by-day, week-by-week, month-by-month, year-by-year, you know, it's something that sort of bonded you also. And it's relentless. It's not something that you forget for a day. Not even for a moment, every, every single moment of the day, always, with all the things that they have to do to try to have a reasonable good quality of life, if you can say it. 

My sister, she probably only lived to thirty, thirty-one years, but she had such a fulfilling life, that maybe if I should live for a hundred years I wouldn't achieve. But I'll never forget, I'll never forget the sufferings that she went through and what that meant, to her as well. I mean I would have given my life for her, just for one day, to be able to wake up and say, 'I don't have anything'. Just for one day. 

 

They bought his sister one of the first slow infusion pumps for desferrioxamine. The family...

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They bought his sister one of the first slow infusion pumps for desferrioxamine. The family...

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Man' So there are wide ranging issues and the fusion pump, the therapy for the reduction of iron, that is every day a slow infusion pump. I actually remember that I bought the first slow infusion pump, here in the UK, because otherwise they basically had to be hospitalised, to have the treatment. And what they would normally do was to keep them in hospital for three, four days, basically have a sort of dialysis, because it was injected in veins instead of intramuscularly when they were doing it at the hospital - get rid of it, then it builds up, and so on. Whereas with this other therapy that you could do at home every day, the aim was to keep the level steadier, instead of the usual build up and come down, which obviously had some other effects as well, I believe. 

As well as the transfusions - when the blood was available. Because I learnt to hate Christmas and all the other holidays, and the terror of the school holidays, because my friends and school mates they were the ones that would most often come to donate the blood for my sister. Because in those periods, I mean Christmas and other holidays, blood was very, very scarce and they had to wait and wait. And I've seen what the effects of someone that - I don't know how - can actually survive with the values of haemoglobin of six and so on. But I've also seen all the effects that gives you - the shivers, you swell up, and not to mention the reactions to transfusions.

Last reviewed December 2018.

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