Screening for sickle cell and beta thalassaemia

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

If we both had it, if my husband had it like me, then our child would have been in danger. There's a danger that the child would die. She could have died when she was a bit older. So one of us has it. My husband does not, he had a test as well. When he had his blood test, the said that, 'You don't have it', and because he doesn't have it, the children won't have it, the condition. There isn't a problem. 

So when you found out that you had thalassaemia [were a carrier], you said that you were worried. What did your husband say? I mean, what did you say to each other?

About thalassaemia?

Yes.

He didn't say anything, he was shocked as well as to 'What condition is this?' So they said that it's no big issue. No great problem. It's just a minor condition. There are self-restraints for this as well, like eating vegetables, fruits. These foods should be eaten more. I have less blood too, so they have given me tablets and said, 'Eat these tablets'.

You have less blood. Right. And what did your husband say when they said that he should be tested?

He said, 'Okay, I'll get tested. There's no problem in that.' I explained to him that 'There could be a problem for just the children, take time for yourself and go have a blood test. I would then be reassured in one way, you'd also be reassured.' I said, 'If both of us don't have it, then there isn't a problem.' I was very worried, what if we both had it? 

Had what?

Thalassaemia. 

If you had it…?

Yes, it would have been more of a problem for the child. Thank God, just one of my daughters has it [is a carrier].

Footnote -  A few people who are beta thalassaemia carriers find they get tired and anaemic sometimes. Carriers of beta thalassaemia need a special blood test (serum iron or serum ferritin test) to diagnose iron deficiency. You should take iron medicines only if this test shows you are short of iron. 

And you said you, you kind of got into blaming each other a bit?

Yeah. Yeah, saying that, he used to say, 'Oh' - because before he did the test I had to like, I had to talk to him like over like three months, four months to get him to do the blood test. Because what they said to me was like, 'Tell him to do the blood test there [abroad], and then he'll just post the result, the blood test result or whatever.' I tried, I tried to talk to him. He couldn't do it. He would keep saying, 'Oh, there's nothing wrong with me, there's nothing wrong with me. I don't want to do anything. There's nothing wrong with me.' I was like, 'Just do the blood test and bring the result.' 

So what happened was he came, because I was having like problem with, I was having like excess fluid in my, during my pregnancy. So I used to have like test, a scan every three weeks or two weeks, like go in for a scan. So the last one [laughs], the last time he came with me, that was like the last scan I had in August. And the midwife was like, 'Where is your partner? We're still waiting for this blood test from him.' And he, and I just said to the woman, I said, 'That's him standing there.' 

The woman just drag him up there and get him to do the blood test [laughs]. And we went in to do the blood test. But by the time we left there, we started fighting before we left the hospital. Because he was like, 'Why are you forcing me to do it? I don't want...' It takes me quite a lot of time to get him to do it because he was thinking there's nothing wrong with him. And I had to tell him, I said, 'You don't have to. If you've got sickle cell trait, you're not, you won't even know that you've got sickle cell trait. You have to do the blood test.' 

I told him, I said, 'I didn't even know. I only found out after. It was like I knew earlier about it because they told me that it's not something that you would be sick of.' I didn't take it so seriously. I didn't even, it's only when I had my child that I was like thinking, 'Okay, I didn't know I had something that's like so, that another person can get or whatever through that.' And he was like, 'I don't want to do a blood test. There's nothing wrong with me. Don't force me to do a blood test.' And he was even like thinking, 'Do you think I've got AIDS or whatever?' I was like, 'Don't, no, it's not that. It's just ...' But it takes me quite a long time to get him to do it. Because I found out very early and he didn't, he didn't want to do it. I think he didn't do it till August. That's why I didn't find out till after she, I had the baby.

Did, did you feel angry with him at the time?

Yeah. There was one point I was like telling him, 'Okay, that's it. If you don't go and do the blood test I don't want to talk to you any more. I don't want anything to do with you any more.' There was one point I had, I actually went through that, like telling him, 'That's it. I don't, if you don't do the blood test, don't bother to call me.' 

Footnote' often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested. A woman whose partner does not attend for screening can be offered a diagnostic test in pregnancy (CVS or amniocentesis) if she wishes to know for certain if the baby is affected. 

Video and audio clips read by an actor.

And did you know whether the father of the baby was a carrier or not?

Well, I did talk to him about it, because I said to him, “If I'm AS, if you're AS we, the child might be, might have the disease”. But he was like, “Hmm.” He was scared because every time we book an appointment to go to see the midwife to do the blood test, but he never went, because - I don't know, he was scared. He was like, “Oh.” He doesn't want to go.

So he never went?

He never went.

How did you feel about that? Did you want him to go? Did you want to know whether he was a carrier?

Yes, I did want it at that point. I did want it, to know if he was. But he didn't want to know. So I thought, I thought he didn't want to know for a reason. I don't know. I guessed, in a way I guessed that probably he's got something he doesn't want me to know. So at that point I was like, “Okay.”

So do you think he did know?

Yeah. I think he did know, because a boy - he was bringing up excuses like, oh, he's scared of needles. I'm thinking, “No, you're a big boy, big man. You can't be scared of needles”, [laughs]. So I think, I personally think he knew he had it, because when I told him, “I've got sickle cell trait” he was like, “Oh, okay”, like he knew about it already, so.

Footnote - A woman whose partner does not attend for screening can be offered a diagnostic test in pregnancy (CVS or amniocentesis) if she wishes to know for certain if the baby is affected. 

English translation, video and audio clips in Urdu'

Why were they asking for your husband's blood?

Because my husband could have D trait, or S trait.

 -and in the first pregnancy'?

They forced him a lot in the first pregnancy too, that 'we have to take the husband's blood', but he did not give it.  

But you were not told why they wanted?

No, I wasn't told, or maybe I didn't give it much importance, because if I was told that 'it is this, like this, this would happen' then I would have given it some importance, but I was so happy that I was pregnant, that's it. In that happiness, I didn't realise' I even ran around like this, and they said 'oh, slow down'. And on one occasion I even fell, there was a little snow, and my sister-in-laws were more worried than I was, that 'what will happen?' I was alright, because I was' my pregnancy passed completely well, I didn't even realise what the nine months were like. There was just this happiness and happiness, that 'I'm going to be a mother', so I was so pleased.

So then, you said that they were forcing your husband. Did he then have testing during the pregnancy?

My husband was with me when the baby was born. As soon as the baby came out, they grabbed my husband, that 'now you will have to give blood', because my husband would not agree to have his blood tested. 'I'm fine, I'm fine, I don't have anything like that, I have nothing like that', he just runs from needles.

Then did he give it? 

When he was caught, then where could he run? Then they left him after taking his blood' Where would they leave him!

What did they do after that, after they did the test? 

They tested him, and his was normal. So they were alright. He has normal haemoglobin. Mine is D trait, but he is normal.

Okay

There are worries when both are the same or he has S trait, but he had normal haemoglobin. I am haemoglobin D. So that does not affect the baby.

Footnote - It does not affect the baby's health if one or both parents carries Haemoglobin D. However, if one parent carries haemoglobin D and the other carries haemoglobin S (sickle cell) the baby has a 1 in 4 risk of having a sickle cell disorder called haemoglobin SD disorder.
 

Well, I think you just take these things for granted. You just take these things for granted, and you know, as much as I would like to protect all my children, or every pregnancy, I had my trust in my husband as well - then husband - that, you know, he must know what he's talking about. He knows this is a big chance, he wouldn't want this to happen to, you know, a child. But I never knew how, you know, ignorant he was [laughs] about all those things - so I just, I just took it for granted really.

So he actually, I mean it wasn't just that he said that, 'I don't want to go for testing.' He kind of said, 'I'm AA [not a carrier].'

Yeah, he said he's AA - that he's ok. I think it's kind of believed to be AA is like when you're not weak, when you're not tired, you're not anaemic, you know, you're active, so that, I mean, you're a big man with big broad shoulders, with big bones, you know - you can do things that the women cannot do. So I think that, in his books, means, you know, not being sickle, not having the sickle trait. But then he has it.

What was his reaction to getting the test result?

[pause] I think he was a bit, he wasn't sure. It's like, 'Well, if I have it, then I have it.' He just put up a front. But he kept praying, he kept, he knew in himself that if anything happened - because then I was still pregnant when we got the result - if the baby was sickle cell then that would be his fault. He knew that. And that, you know, he, [pause] he felt really guilty about that - really guilty. I mean, you know, it would have only taken you an hour to have a test done. Well then, you know? But then it was too late.

Did that cause problems between you?

Well, it didn't. It didn't really at first, because my daughter is one of those ones that kept most of her baby blood when she was a baby, so she didn't have any problems at all. But when it now comes to her going on a penicillin which has to be taken in the mornings and in the evenings, you know, we both have to take responsibility for that. When it came to wrapping her up, you know, properly for her to, you know, go outdoors in the cold, we would have to take responsibility for that. But [pause] he left, you know, everything up to me. That's the point that I had to make him realise that this is not my responsibility - although I'm the Mum, I'm the one that stays at home to look after the baby - but then this responsibility has got to be shared. That's when it dawned on him. And when he saw the amount of, you know, penicillin she had to take in the morning and in the night, it didn't all go well with him - he felt really bad. That's when he really felt it.

Did you feel angry with him?

Mmm, [pause] I wouldn't really say anger with him. I would say very sympathetic towards my daughter. I felt guilty. I felt bad. I felt, you know, as a mother I should have taken more responsibility and I didn't really feel good about myself for some time, and that really worried me a lot. I had to deal with that on its own. But thank God I've moved on from there. And that's why when I got pregnant again, after nine years, I thought I have to do this properly this time.

Footnote - often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested.
 

So, when you were starting to think about having children of your own -

Yeah

What were your thoughts about having the condition and having children?

I was excited to have children, yeah. I didn't know that - I wasn't told then, because I didn't know anything there - that I have to look for an AA [not a carrier] partner, that have AA, so I don't know. But I mean that my baby's father is very active, he like playing football. So I didn't know that. I thought that he's AA because he doesn't get sick. 

So, so when I got pregnant the doctor, the nurse told me at the hospital that I need to do a test. I said, 'Which test?' She said, 'To know if the baby' - no, she first asked me, 'The father, what type, what type is the blood'? I said, 'It's AA, I think.' Then she said about if it's not AA. I said, 'No, it's AA', because I was really arguing with her. So she told, she told me in case it is not AA this - she gave me more information that there's some test I can do to, to know if the baby is a carrier or she's actually carrying the disease. Then when I go home, I ask the baby father, my partner, what is his blood type? He said, 'It's AA', because he doesn't get sick. Anyway, didn't - before I left the nurse she told me that my partner have to do blood tests, to know, to be safe. He went to do the blood test and I was so shocked to find out he's AS [sickle cell carrier]. So I had to do the CVS test, so - and the CVS revealed the baby has sickle cell, SC [haemoglobin SC disorder]. So that's, so it's a very painful day.

Footnote - often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested. 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.

Blood group is a different issue unconnected with carrier status. Being a carrier is about the type of haemoglobin found within the red blood cells of certain people. Blood group is about tiny markers on the surface of everyone's red blood cells, called antigens. These antigens belong to one of four main blood groups (A, B, O or AB). Everyone has a blood group. If someone is given a blood transfusion, it must be from a compatible blood group.

Video and audio clips read by an actor.

What did you do about testing before marriage? Did you find out if your partner was a carrier?

Yeah, it's quite interesting because I used to have in my head, “Oh well, I wouldn't want to marry someone who is a carrier”, basically, because I know this sort of thing. So when I met my partner, you know, I told him about myself, because I mean he has to know that I've got SC disorder [haemoglobin SC disorder]. And I remember that when I met him (who's my husband) I said, “Oh well, he's never been sick before. He can never have it. It's sure he hasn't got any traits, you know. He's never been, he's always very healthy, you know. He hasn't got any trait, you know.” 

And at that time I just didn't really sort of think in my head that, “Oh no, he has to go and get tested, basically just straight away,” you know. And so when I got pregnant that's the time that we just thought, “Okay, let him get tested.” He didn't get tested before, before I got pregnant. So when I got pregnant with my first daughter, he got tested and when they told him that he was [AS] sickle cell carrier, you know, he couldn't really believe that. “No, it just couldn't be that is right”, you know. But then they did the test again, and they said, “Yeah, it's AS [sickle cell carrier].” …I suppose he didn't really know much about, you know, being a carrier, because I don't know much about being a carrier. I know something, I know about living with sickle cell, but not a carrier. 

Footnote - often people do not realise that being a carrier does not affect your general health and you may have no idea you are a carrier unless you are tested. 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. 

The word 'trait' is sometimes used to describe carrier status.

Video and audio clips read by an actor.

So I went over to Pakistan again and I got married. And it was quite difficult, because I did explain to my husband what it was about and everything, because I didn't want to keep him in the dark. So I explained to him before we got married exactly what the condition was.  And, you know, he was still OK about it. And we tried to have him tested over there but not - everybody we came in contact with just didn't realise what it was about, really, and we couldn't have a test done. 

So as soon as he came over to England we had him tested and he found out he was negative so we were really quite reassured by that and we were quite happy. We weren't planning to have children at the time. We were just thinking to, you know, “Let's just make sure he's OK, really.” And you know, thankfully it was negative.

Video and audio clips read by an actor.

So the next thing is, you know, “Your husband's got to be tested again”, and this is really funny now. My husband goes, “I'm not getting tested.” And I says, “ You are getting tested.” And I'm just laughing at this, and I says, “You know what? If I have to have the needles all the time, I can't see way you shouldn't have them.” So I'm pushing him to go for this blood test. [laughs] “No, no, no.” So the nurse has rung him again at home. “You need to come in for this blood test.” And I'm just laughing and I'm going, “Okay, you need to go in for this blood test.” He's going, “I'm not going for the blood test. Tell them to look on my records. I don't have it.” 

So he said this to the receptionist. And she looked on his records and she goes, “It doesn't mention anything about you having the test before, or if you have it or you don't have it.” So he's going, “Okay.” 

So he goes in to see the nurse now. And whilst he's sat there for the nurse and she's getting all his things ready, yeah? He tells me when he comes home, he says, “She's getting all the stuff ready and I says to her, I crossed my arms and says, 'I'm not having it done'.” And I just started to laugh at him, and I says, “Why didn't you just have it done? Why are you so soft?” And now I'm just saying this to him, “Why are you so soft? Why don't you just have it done? Look at my arms, they're blue. How come you don't get it done?” And he goes, “I'm not having it done. I says to her, 'I don't have it. I've had the test twice before. I'm not having it again'.” 

And the nurse understands it, and she says to him, “You know, I don't think you should have it done again. You know you haven't got it. It's not like you're going to catch it now, are you?” So, you know, she says this to him as well, so she didn't do the test on him. Really. 

English translation:

My husband was called for screening twice - why? Because he had changed his name. He'd changed his name. When I had my first son, he had another name, and after changing his name, the new name wasn't in his records, so they thought that he was perhaps another husband, so that's it.

And how was that when they called, was it easy for him to accept having another test?

No he didn't have the test twice. When they called, they sent the form for him to have another test, but we said to ourselves that the results will be the same, because it's not something that changes, so we called the hopsital to tell them it was the same person. It was just his name that had changed.

French original:

Mon mari a été appelé deux fois, pourquoi? Parce qu’il avait changé son nom. Il avait changé de nom. Quand j’ai accouché de mon premier fils, il avait un autre nom et après avoir changé son nom le nouveau nom n’était pas dans le record, dans son record, donc ils pensaient que c’était peut-être un autre mari, voilà.

Et comment ça a été lorsqu’on l’a rappelé, c’était plus facile pour lui d’accepter le diagnostic?

Non il n’a pas passé le test deux fois. Oui. Quand on a appelé, ils ont envoyé la forme qu’il allait passer le test encore, mais on s’est dit que les résultats sont les mêmes, puisque ça ne change pas, donc on a appelé l’hôpital pour leur dire que c’est la même personne. C’est le nom seulement qui avait changé.