Telling people you are a carrier: Implications for family

When people find out that they carry sickle cell or beta thalassaemia it does not just affect them as an individual. Because it runs in families, it has important implications for other family members, especially any brothers, sisters and cousins of childbearing age.

Many people we talked to said they had told their own parents straight away, especially their mothers. People turned to their families for support and advice, but also to find out if their parents knew of any family history of the condition. Some people also wanted to let brothers, sisters and cousins know, so they could decide whether to have carrier screening themselves.

When she discovered both she and her partner were sickle cell carriers, she called her mum for…

Age at interview 24

Gender Female

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Okay. And so what, what did you both feel when you got these results?

[Laugh] Well, I was just sad really. I was sad because I didn’t know what to do, I was just confused. And because I knew if we were going to have a sickle cell baby we might want to terminate the pregnancy, so that was the only thing that scared me. But apart from that I was fine. Then I called up my Mum, because shes really prayerful and I told her my situation and she was always praying for me and comforting me, and she told me that if I terminated the pregnancy she was never going to talk to me again, so [laughs]. I just – yeah, you know, we just kept on praying and hoping for the best.

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One couple were both white, and both families were white as far back as they could remember.

They tried to work out with the family where the sickle cell gene had come from. She made sure…

Gender Male

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Were you surprised when the results came back that it was you? I mean how did you feel when you got that result?

FatherWell, we both–.

Mother I don’t know. We were –

FatherWe both sat here for an hour, didnt we, trying to work out —

Mother Who it could be [laugh].

Father- who it was. We were just virtually trying to, you know, look at Internets and then see who can trace the family tree furthest back, and see. We was chasing family, werent we? And pushing mums and dads and going back as far as you can with each other’s family to, you know, the furthest relative being alive and asking questions.

Mother I mean, we phoned parents. It’s me. [laugh] Is it you? I don’t know. Well, it must be. We don’t, I mean Ive said to them, don’t, I’m not bothered. Theres, as long you’re happy, if you want to know, then that’s fine. But I don’t need to know. It’s just one of those things.

And as far as they know theres no history of any –

Mother No.

– mixed marriages or anything?

Mother No. I mean the only thing we were told as well was that it’s European, Mediterranean.

FatherMediterranean, it could be, yeah.

Mother So it could be Spanish. But, you know, it could be – we have no idea. I mean, me and my father have sat and chatted. And weve tried to go back and hes reminisced and then hes remembered somebody else. Oh, but they were adopted. And so as soon as he said that, we – theres no – I mean, presuming it’s my father. It might be my mother. But either way I says, don’t rush off to the doctor’s and have blood tests. Theres no need. I said, Because were fine.

And youve talked to your sister?

MotherI have talked to her, yes, and a female cousin as well, and said, you know, Look, it could be, you could have it. You could just be a carrier. Again, theres no harm to you. But just bear it in mind. But we, I was under the impression it was going to be antenatally as a – I just feared it was a bit more common now. It was becoming more common within the white community. So it was going to become more mainstream on testing.

Footnote this couple are both white and both families are white as far back as they can recall. There is no evidence that sickle cell carriers are becoming more common among the white population, but with the national screening programme it is more likely that they will be identified, whereas previously they might never have known they were carriers.

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A few people were surprised to discover their parents knew there was a family history of the condition but had never told their own children, either because they did not want to talk about it or did not realise how important it could be. People who knew that their own children were carriers usually intended to make sure that they knew about it before they grew up. (See ‘Telling people – Implications for relationships and marriage’).

When she got her son’s newborn screening test results, she rang her father to ask about family…

Age at interview 32

Gender Female

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Well I didn’t know my father until I was 13 anyway, so lots of things are coming out in the family that I’ve not known about, especially having a Jamaican side of the family. Theres things you just don’t know. And knowing I was mixed race I wanted to make sure that I wasn’t. I had sort of asked – because my dad’s a really funny person to ask questions, personal questions, anyway, he doesn’t like to disclose things. So it was case of, you’d ask and it was sort of brushed under the carpet. It would be a quick answer and then brushed under the carpet.

So to find out that I was a carrier, and he knew he was and didn’t bother to tell me, I was really, really annoyed. Because like I say I could have had a partner that was a sickle cell carrier. Not knowing I was, we could have then had full blown sickle cell babies, and it’s a case of then that’s, it is frightening, isn’t it? I mean, it’s frightening knowing that were only carriers, but not as bad that my children could have been full blown, so.

And he obviously had mentioned at some point to you that there were members of the family that were?

Well, I asked. When I had the letter back, the first letter saying that my son was a possible carrier, I rang him up and said, ‘Dad, look, is there sickle cell in the family?’ And he said, ‘Yeah, but it’s only trait and it’s distant, so don’t worry about it. It was a case of ‘Don’t worry about it, were only carriers. Theres nothing to worry about. And I was like, ‘But I have got to worry about it, because if my son has got it, then hes got to worry for himself and his partner when hes older, for his own children’s sake. Because, just because he might decide to choose a mixed race girlfriend or a full Jamaican girlfriend, or whoever – somebody that could be a carrier of sickle cell, and so hes obviously got be careful.

And he, my dad, should have told me for me to be extra careful too, because I have had a partner, in the past, that’s been a sickle cell carrier. And to think that how close I could have come to having a full blown sickle cell baby, it frightened me. It did frighten me.

Footnote the word ‘trait’ has sometimes been used to describe carrier status. Sometimes it becomes confused with the word ‘trace, which can give the wrong impression that it is insignificant.

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Her mum (who is part Greek-Cypriot) knew she herself was a beta thalassaemia carrier but did not…

Age at interview 22

Gender Female

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And while you were waiting for the results, did you talk – well, like, you must have rung up your mum?

Oh yeah, I was ringing up my mum, because obviously she didn’t tell me that she had that. And then she obviously said, ‘Oh, it’s probably from me, you know. I did have that. And I said, ‘Well, you know, why didn’t you tell me?’ sort of thing, and she said, ‘Well, I didn’t think it would sort of apply to you. But obviously it did, so – but we was all very worried, very worried.

And was she able to tell you anything about the condition from like her family?

[Laughs] Not really.

No?

No, just that she probably got it from her father, but she didn’t know her father, so that’s probably why she didn’t really know too much about it.

Okay, so she didn’t have any family experience of people actually having the condition?

No.

What, did she have a view about what you should do?

Yeah, she just wanted to obviously make sure if baby did have it or not, and if he did obviously wed all probably talk about it and take it from there, because I do ask – you know, I’m very, very close with my mum, so you know, what she says I do listen to really.

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For many families the news came as a shock, and they needed reassurance and information about what it means to be a carrier. Some found it hard to believe that anyone in their family was affected. Other families did not see it as a particular problem. Levels of awareness of the conditions and how they are inherited vary from country to country and from family to family, and affect how families respond.

When her husband’s family discovered he carried haemoglobin C and the baby had SC disorder they…

Age at interview 35

Gender Female

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I mean, family, when they got to know, they were probably more scared, because they didn’t really know anything about it. They thought it was completely – they thought it was SS [sickle cell anaemia]. So you had to explain that it’s a mild form of SS, you know. But even saying that, they were still scared, yeah.

After that I think that was when his family, they all had tests done. Since he was AC [carrier of haemoglobin C], there are bound to be a few ACs in the family. Because in my family, already, we know we have the S trait, so they had been doing tests before, anyway.

So for your family it wasn’t a particular shock?

Yeah, but I think then it made them more aware of it, that they have to really put it into consideration.

And know what their potential partner is carrying?

Exactly, exactly.

And did any of your husband’s family discover that they were carriers?

I think his sister. I think shes AC. Yeah, I’m not sure whether they’ve all done it by now. You know, I mean there was a time we were even teasing the parents that, you know, “One of you is C, I’m sure one of you is C”, you know, teasing them. But obviously because they’re old, you know, they’re not really bothered about testing, so it’s just for the kids to go and test.

Footnote ‘SS’ means someone who has inherited haemoglobin S from both parents and therefore has sickle cell anaemia. 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.

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One Christian mother held a firm belief that medical science did not have all the answers and that through faith and prayer her baby would not be affected. ‘The bible says what you ask from God you get So I know I asked for a healthy baby and that’s what I’m going to get.’ (See Interview 05).

No-one in their family in Vietnam really understands what beta thalassaemia or haemoglobin E are.

Gender Male

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So neither of you had any knowledge of family members who are carriers or have the condition?

Father’No. I mean we asked our mother, and she asked on her side, and just no knowledge whatsoever. I think what we, having talked to our parents and things like that, I think in Vietnam, you know, some people have it and they obviously – because they don’t have the facility to do things like that – so I think people have it but, you know, they just, if the baby’s sick then they just say, ‘Were just unlucky, you know. Theres something wrong with the baby’, really. So I think obviously somebody in our family got the, is carrying the same blood type, but they just don’t know that such a condition exists, do you know what I mean? And they just say, ‘It’s a bit unlucky’, really. But they don’t understand the concept of the whole thing. It’s just a bit unknown.

So had you heard of thalassaemia before or was it completely new to you?

[checks with wife in Vietnamese]

Father’No. I mean I thought I was, knew a lot, but this is completely – no, you know, not at all.

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A couple where the wife comes from Thailand also had difficulties explaining Haemoglobin E to her family. She said, ‘I tell them but they say they don’t have it.’ Her husband added, ‘It’s a completely different situation in Thailand, do you know what I mean? They haven’t got the health care that we’ve got over here, full stop.’ (Interview 27)

Although most people wanted family members to be aware that they might be at risk if they were planning future pregnancies, they also wanted to reassure them that being a carrier is not itself a threat to anyone’s health. One couple did not feel it was urgent to tell their family, although they planned to at some point.

They have not told their family yet – they feel being a carrier is not something to worry about…

Age at interview 29

Gender Male

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Had your wife ever had any contact with anyone with sickle cell, or known anybody with it?

That is in terms of family, or friend? No, I don’t think so. No, I don’t think. Because she didn’t even know that shes got that kind of traces in her blood, basically. She didn’t know. So up to now she doesn’t know whether the mum was the carrier, or the dad. We still have no idea about that.

Does she have brothers and sisters?

Yeah, shes got brothers and sisters, but I think maybe later – weve still got, we might tell them to, to take the test to see whether any of them has got the traces or something of that nature.

So at the moment you haven’t told anybody on her side?

No we haven’t, we haven’t. We haven’t told anyone.

Was there a particular reason for not telling people?

It just hasn’t, it hasn’t actually occurred to us, basically, because, I think mainly because we don’t see it as a disease, you know. So were just taking it as normal for, for – were just taking it as normal. Or it’s just slipped our mind. That’s it, I think so.

But you probably will tell them at some point?

Yeah. Were going to tell them, basically. Well tell them to, to take the test, if theres a chance for them to do it.

Footnote the word ‘trait’ has sometimes been used to describe carrier status. Sometimes it becomes confused with the word ‘trace, which can give the wrong impression that it is insignificant.

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How quickly people feel they ought to tell their family depends partly on whether other family members are at the stage of planning or having children of their own.

Telling people about the actual diagnosis of sickle cell anaemia or beta thalassaemia major was another issue for some people. This is discussed in sections on ‘Understanding the conditions’ and ‘Awareness and understanding about the conditions’.