Screening for sickle cell and beta thalassaemia

Video and audio clips read by an actor.

I think I originally found out I was a carrier about 9 to 10 years ago. One of my friends had recently got married and she was a carrier, and she'd got married abroad and she'd found out that her husband was also a carrier. And then one of my friends was doing some research on it as well, on thalassaemia. So I knew quite a bit of information about it really, just watching my friend go through it and then my other friend doing her thesis on it. So it gave me a lot of background information about the condition, really, and I knew quite a lot about it.

And I wasn't too suspicious really, because I knew that they tested women whilst they were pregnant, and I had three older sisters and they'd all had children, and they were obviously not carriers. So I just thought, “Well, I'm going to obviously be quite safe. Or it shouldn't be really a problem.” 

But then I went to Pakistan and I got engaged to one of my first cousins. And then I was just thinking about it and I knew from my father's side of the family lots of his cousins had the thalassaemia trait, and having [thalassaemia] major. So I thought that maybe I should have it tested really. So I went to see my doctor, and I asked him, you know, to have this test done, and he was quite funny with me really, because he said to me, “You're just being very silly, really, there's no need for you to worry,” and just sort of like shrugged me away. But I insisted and he did admittedly have the test done for me. 

And then he told me I wasn't a carrier. So I was quite happy with that, until one day, just about a month later, I was seeing the nurse for some reason and I'd taken my notes with me upstairs and I was sat there looking through them and discovered I was a carrier.

But he'd told you you weren't?

Yeah. And not only that, it had also come in whilst I was reading my notes that they knew I was a carrier since I was about 10 years old. Because they'd done some blood tests on me - I don't know why - when I was about 10 years old, and from those blood tests it'd shown that I'd had the thalassaemia trait. So it wasn't just once that he'd not told me, but in the past it'd been written twice before that I was a carrier when I've had, you know, previous tests done. 

So I was quite upset, and I was quite angry as well. And I had a long-winded argument with my doctor who was admitting that he had told me, and I was insisting that he hadn't told me. So it wasn't something that I was going to just, you know, forget that I didn't have it. So that's the point at which I found out I had this condition. 

English translation, video and audio clips in Mirpuri, read by an actor.

I came from Pakistan in January 1995 and I had a check-up here. You know when a new person comes here, they take blood and do a check-up. They did a check-up, took blood, and they knew about my husband already that he's a thalassaemia carrier. I didn't know, because in Pakistan they don't tell you whether you're a carrier, they don't tell you anything. Then when I came here, they did it and said you're a carrier, and my husband said that - and my uncle, he too said that when [my husband] was 16 years old, they invited him, I think it was a doctor or someone. They said don't marry him to a carrier, because the children could have major. If both husband and wife are carriers, then they can have children with major. 

English translation, video and audio clips in Urdu, read by an actor.

When I first came here, they asked me to have blood tests. They tested my urine and they said you have thalassaemia [a carrier]. At first, I was in shock. I thought 'this is some serious disease' and then they called me and they said this is not big serious condition, just that, it's a minor condition. There is a lot of this in Pakistan, you know, like germs, that sort of condition. I can't remember what it's called. I know I'd always had that condition. They call this thalassaemia, and you're okay. Ah, yes, it's malaria. I mean, you won't get malaria. You'll be safe from this malaria because of thalassaemia. And that's it. That's what they told me about it. At first, I was confused, but then I was okay. My daughter has thalassaemia [carrier] as well, my elder daughter. We both have the same.

They don't pay attention to these things there [in Pakistan]. In Pakistan, I had my blood tested, I had my urine tested as well, when I was pregnant, and they said that your blood is okay, they didn't bother. They tested my blood when I came here, and they found out that I have thalassaemia, and I went there about five, six times. I went at the time of my daughter and now as well, in pregnancy, I went about two or three times. They told me, said it was a minor condition, nothing so major. Don't take it as a serious condition. 

Footnotes' Being a beta thalassaemia carrier is believed to offer some resistance to malaria. Thalassaemia is common in those parts of the world where malaria is found. Carrier status is always checked by a blood test. Urine tests monitor other aspects of the mother's health during pregnancy.

Video and audio clips read by an actor.

When did you find out you were carriers - have you known that...?

Woman - For a long time. Since I was a teenager.

Man - Same thing. Because we had thalassaemia cases in my family. My sister passed away. She had it. So it was known to me - at least I have known since I was a teenager as well.

And how did you find out?

Woman - My GP and hospital requested the test following a long illness which left me bedbound for several days. 

And did you have any family members who had the condition or were carriers? 

Woman - No, no, only second cousins, third nephews. So yes, you do know of cases, because I come from a small village. I've got two brothers and five sisters - but none of my nephews and nieces have got thalassaemia. 

Video and audio clips read by an actor.

Since I was at school, I was always getting headaches, I was always getting checked for why. I kept having blood tests because they wanted to know if I was anaemic, because I always used to have headaches. And they said I was anaemic and that's it, and gave me iron tablets. And it was only when I went to university in 2000 that they actually wanted to know why it was that I was anaemic for so long. Because it was just a regular thing where I felt so tired, I was lethargic, and why I always kept getting headaches. And they realised that I was actually a beta thalassaemia carrier. And so that was back in 2000 when they actually tested me then. And that's when we got to the root of the problem.

The first I knew of it was I received a letter through the post saying that my son was a possible sickle cell carrier and that was like, I was blown away. I couldn't believe it, because I'd had a test done about eight years ago, because I'd had problems with passing out, that I actually thought maybe I'd got sickle cell. So I asked the doctor to do a test. It come back negative. So of course I presumed that there was nothing wrong with me. I have no form of sickle cell, nothing to worry about. So of course when this comes through the door, I was like, 'That can't be right. I know I'm not a carrier. I know the dad isn't a carrier. So where would it have come from?' And it was like, 'I don't know.'

I'd like to have known before, before pregnancy. At the end of the day I had tests years ago which should have, I should have been told there and then, 8 years ago, whether I was a carrier or not, prior to having children, and then I wouldn't have had that risk, or that shock of finding out that my child is a sickle cell carrier. You know what I mean? It's a case of I'd have known that there was a maybe chance before having him, with all three of them. So, you know, it's a case of you find out 8 years later after you've had three children that you're a sickle cell carrier, and you've already purposely asked for the test.

And tell me about the, the moment when you then found out about being a carrier for sickle cell and how that happened?

That, like I told you, that happened this year. Because I changed my consultant because I was having accommodation problem. He [partner] lives in [town] and I'm in north London. 

So he said I should move in with him. So I need to change because of the travelling, and because we are advised that you'll need to have a consultant, a clinic that is close to you in case anything happens. Because it's quite some distance and because I'm so comfortable with the consultant - he's the man that I'm losing - I didn't want to change. But I had this consultant came to the group I use, and I'm not very good with women in the medical - but the way she spoke I said, 'Okay, I might give it a try.' A lot of people use the place. So I went to see her and I decided to change. 

So then they started tests all over again to see what and what, and then they need to get my case study from the hospital, they need to do their own set. So after everything, the only thing that came out negative was that I was a carrier. And that was a shock to me. It's not a big issue to me, because I know about it back home. The only thing was that it was a shock to me because they didn't tell me that before. So, and she said, 'You have to be careful with your partner that he's not a carrier.' Then the question I asked her that, 'How can I be a carrier? I've never been sick. I'm not in and out of the hospital. And none of my siblings are, and my mother.' She said it's possible because it's one of my parents that's a carrier, that's why none of the children - that the only problem is if both, both partners are carriers. So now what I have to avoid is getting involved with somebody that is also a carrier. And ever since that has not played any issue. It's no big deal to me because I know about it. I knew a lot about it than the HIV. So I know the only way to prevent it is not to get involved with somebody that is also a carrier as I am.