Screening for sickle cell and beta thalassaemia

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

Father: Well, we both--.

Mother:  I don't know. We were -

Father: We both sat here for an hour, didn't 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, weren't 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 I've said to them, 'Don't, I'm not bothered.' There's, 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 there's 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.

Father:  Mediterranean, 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 we've tried to go back and he's reminisced and then he's remembered somebody else. 'Oh, but they were adopted'. And so as soon as he said that, we - there's 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. There's no need.' I said, 'Because we're fine.'

And you've talked to your sister?

Mother: I 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, there's 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.

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. There's 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 we're 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, we're only carriers. There's nothing to worry about.' And I was like, 'But I have got to worry about it, because if my son has got it, then he's got to worry for himself and his partner when he's 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 he's 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.
 

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 we'd 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.
 

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 she's 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, she's got brothers and sisters, but I think maybe later - we've 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 we're just taking it as normal for, for - we're 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. We're going to tell them, basically. We'll tell them to, to take the test, if there's 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.