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Screening for sickle cell and beta thalassaemia

Living with beta thalassaemia major & intermedia

People who are making decisions about screening and diagnosis for beta thalassaemia often ask what life would be like for a child with the condition. Thalassaemia can take several forms. The most common is beta thalassaemia major. A child born with beta thalassaemia major appears well at first, because the baby still has a store of fetal haemoglobin in its blood. After 3-6 months of age, as the amount of fetal haemoglobin is reduced, the baby with beta thalassaemia cannot produce enough normal haemoglobin, and so becomes more and more anaemic. Left untreated, most children with this severe anaemia would die by the age of two, but with regular blood transfusions many children will survive to adulthood. A side effect of regular blood transfusions is a dangerous build-up of iron in the body over time which can cause liver and heart damage. It is possible to get rid of this iron by taking one of three drugs: known as iron chelators. Desferrioxamine (Desferal) is given by a slow infusion (over 8 hours) into the subcutaneous tissue of abdomen or thigh. Deferiprone (Ferriprox) is taken as a tablet or liquid, and is sometimes used in conjunction with Desferrioxamine. Deferasirox (Exjade) is an oral chelator, taken as a  tablet and is now the accepted treatment of choice. Although subcutaneous chelation therapy improved life expectancy, it was a difficult and uncomfortable treatment for children and teenagers to cope with and compliance was often low. Oral treatment with Deferasirox (Exjade) is well tolerated and has made a big difference to iron management. All treatments need to be monitored carefully. 

Parents of children with beta thalassaemia major described their feelings about what life is like for their child.

 

Since her son was three months old he has had blood transfusions every three weeks and chelation...

Since her son was three months old he has had blood transfusions every three weeks and chelation...

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

At seven months, it was to hospitals every day. They said he doesn't have this, or this. He wasn't even three months when he started having blood transfusions. He still has it, every three weeks. Other people's children have it after about four weeks, he has it every three weeks. They give him tablets for his bones.

What do they give him? 

The hospital give him tablets, I mean his bones are not growing properly. He takes four tablets, zinc. But it's a headache, you have to keep giving them. The poor thing has four tablets a day and has an injection for eight hours, Desferal. Some children have it seven nights a week. Thank God he doesn't have to have it seven days, he has it on three days a week. And then he has to have a Vitamin C tablet, have the machine detached, get up and go to school, he's tired. Now it's been about two months that he gets an infection in his leg. There is suffering for people everyday, when I think… it never happened before, why has it happened? He had a check-up and they just said that 'he has a high chance of infection'.

He gets the infection because there something different about his blood?

Yes. I don't know how he's got this high infection in his blood. He'd never had an infection like this. I don't know where this infection came from. I can only think that the infection is in the blood that they give to him, or Allah knows, I don't know, because he's never had like flu or infections like this. Then the infections come through the blood somewhere. His legs sometimes get bruised. I've been giving him antibiotics, now Allah help him get better.

Footnote' doctors will advise how often a person with beta thalassaemia major needs blood transfusions and chelation thereapy to remove excess iron (Desferral/desferrioxamine). Most people have chelation therapy on 5 nights a week. People are often prescribed folic acid, vitamin C and other tablets to help keep them healthy. Antibiotics may be needed to treat infections, which can come from a variety of sources, including the blood transfusion itself.

 

Her daughter remained well till she was four, then started blood transfusions. Sometimes she asks...

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Her daughter remained well till she was four, then started blood transfusions. Sometimes she asks...

Age at interview: 32
Sex: Female
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English translation, audio clip in Mirpuri.

Okay, and is your daughter well, or is she ill mostly, or how'

She stays well if she has blood. But sometimes she gets it. She sometimes vomits, but is mostly well. She had blood [transfusions] after four years. She's been well in the first four years. We've been taking her to the doctor and they've been checking that she's making blood. But in a minute, she had a fever and had less blood. 

So it's been two years now?

They kept checking her. 

And how often does she have blood?

Every month, after four weeks.

and injections etcetera'

'yes, we give them to her at night.

Okay.

She says 'Why am I unwell like this? My brothers are fine. Why do I have to have blood?', she talks like this, like, 'Why am I ill?'

And she's only six years old?

Yes.

Then how do you respond?

I say, 'It's from Allah, dear'. Now look her uncle had it as well. These are Allah's doings. People cannot do anything. Then when she sees everyone in hospital, young boys, I mean there is everyone in hospital, she's not on her own, everyone has blood. She sees everyone and she knows that she is not alone. She's intelligent and she talks. That's her photo up there.
 

 

Her baby son was very unwell for a while before beta thalassaemia major was diagnosed. The...

Her baby son was very unwell for a while before beta thalassaemia major was diagnosed. The...

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English translation, video and audio clips in Sylheti. 

Mother' Even after the birth of my child I did not realise much. Everything was Ok with him. His weight was also Ok. After 2-3 days of his birth, they said that he has developed Jaundice. They kept him (suppose in the hospital) for one week, 4 weeks 4 / 5/6 days and then sent him home. Then the midwife came and said he was worse and kept him another week in the hospital. His eating, sitting and everything were normal. It was after about three or four months while after eating he wasn't able to digest and he did not have any appetite and his stomach was upset. At that time they sent us to another hospital, where we stayed for a week with him but they couldn't find anything. While he had a little relief they told us it is far away (from your home), take him home as he seemed to be ok.

They said if he did get worse they would put him on a drip. Having stayed about 8/9 days in the hospital he came home. But after only a couple of days he became ill again. He had a temperature, upset stomach and was constantly crying. He was only four / five months old and wasn't able to communicate. Just constantly crying. His GP came out and advised us to go back to the same place in the hospital. They should check him very well. The child was helpless and unable to communicate. He said they should check the blood well to see why the child has the difficulty. Already a good number of days have elapsed and he is not recovering, rather getting worse. 

So we went back to the same ward. They did further tests and kept taking his blood. A special doctor came to see him to explain in detail. They said that they were not quite sure what was going on. They continued with further tests. They tested his blood for three times to find out what was happing with him. At that time they did the treatment. However if your GP is helpful and refers you to the hospital then you could receive better treatment. Our GP was very helpful during this time. They did the treatment and understood. The doctor was from our community. He explained to us well and offered a lot of moral support and told me not to worry. Later on'

So the doctor at this time explained things?

Mother' Yes he explained, and another doctor came, who also explained things as well and told me about the condition of my child. Advised me to'

Did they tell what illness it was?

Mother' Yes, at that time they told me.

After how many days the illness was detected?

Mother' About two weeks after staying in hospital. Then the doctor'

So at the beginning he just went to the hospital and came back, at that time they didn't know about the trait?

Mother' No, their' said they didn't realise. Sometimes they say 5 months, some say 3 months, sometimes after a few years they suspect the illness [beta thalassaemia major]. So one hospital to another hospital didn't know. That hospital was quite far and they didn't know. So they got doctors from other hospital to make me understand, and conduct tests to make sure, and then they said treatment would be like this, he would need injections and blood. At that time I didn't realise much that it could get worse, I thought after a few months he would get better, but after they said it was treatment for the rest of his life. After I returned I had an accident with him b

For most people with beta thalassaemia major, there is no prospect of a cure, and they will need regular transfusions throughout their life. A few people may be assessed as suitable for a bone marrow transplant. If successful, this can enable the person to become transfusion-free. However, it is a risky procedure, and the person may not survive. One couple were told their new baby provided a good donor match for her older brother with beta thalassaemia major. He has been successfully treated, and they are overjoyed that. so far, he has needed no more blood transfusions.

 

She first heard about bone marrow transplants as a possible treatment for beta thalassaemia major...

She first heard about bone marrow transplants as a possible treatment for beta thalassaemia major...

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English translation, video and audio clips in Sylheti. 

Mother' After I joined a conference group

What group?

Mother' It was a thalassaemia group. It was in Manchester, Blackburn, London, Greenwich - the conferences were there. I went to Manchester and Birmingham once.

With him [son]?

Mother' At first I went without him and he was too little, didn't want to travel with him on such a long journey. I left him with my parents, I left him there and went. Then when he was a little older and more understanding, I took him twice. They had a workshop for children so he went and sat there, so I took him there. Doctors were there, they used to explain the different treatments. Tablets can replace injections. One benefit from attending these conferences is that you can learn about things and I learnt about bone marrow transplants.

Father' From what other countries'

Mother' Every year when there's a conference, a leaflet comes to my house.

At that time was your husband there?

Mother' No, he's been here [UK] for 3 years. Because I couldn't work, they wouldn't grant a visa, I didn't know if I should be with him [son] or not, because needs a guardian for 24 hours. And I need to be with him and none can replace me. Going to hospital, talking to doctors, what the problem is, what we need, for all this I am needed, and my parents can't speak English.

Do they live nearby?

Mother' They are, they are near, before we used to live in one house, after his bone marrow we got a new house, and we worked on it ourselves.

Mashallah

 

In her second pregnancy she learnt the new baby could be a donor match for her son to have a bone...

In her second pregnancy she learnt the new baby could be a donor match for her son to have a bone...

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English translation, video and audio clips in Sylheti. 

So did you find out about the bone marrow transplant for thalassaemia? 

Mother' Yes in that conference. 

Which conference?

Mother' In numerous areas, Manchester, Blackburn, Birmingham

So how did you understand?

Mother' At the conferences they had separate doctors who noted things and reported back to us about the transplants they had done. They let us ask questions, and whoever had questions could ask about problems. So I asked the doctors for advice and they said that I should speak to my doctors at the hospital where my son is receiving treatment. 

Were you pregnant at that time?

Mother' No.

Were you aware about how a normal sibling could provide life-saving treatment?

Mother' They told me after the doctors

So you weren't pregnant before the transplant?

Mother' No at that time I wasn't, when I first wanted the transplant, I wasn't pregnant. At that time, they explained to me that'

Did they say if it's a brother or sister then a transplant'

Mother' No at first they told me how it can be done, that if you had the same problem with a second child, its not 100% sure, there was 50% chance of the second child being born with thalassaemia [carrier]. I did not want to take the risk, so I told them that they were not 100% sure if it would be the same, it could be different. There's no guarantee, then I said, can it be done somewhere else? They said, elsewhere, if there is a matching, a chance can be taken, but may not be successful. The way you've been successful with your child's transplant, we can give a guarantee, we can maybe give 98/98% guarantee, but here we can give 50%, so there's more risk involved. So then they said, after getting pregnant'

So did you get pregnant in this hope or just?

Mother' Just actually. I left it to Allah'

You put faith in Allah

Mother' I left everything in Allah's hand, whatever Allah wills. They told me to have a test when I was pregnant'

Father' We thought whatever happens, we didn't go for tests, we left everything in the hands of Allah, whatever happens, it is the will of Allah. Praise be to Allah, my daughter is ok.

So did you go for any tests at this time?

Mother' No they called us a few times, but I told them I didn't want to. 

So when you had the first test, did they do it by themselves? By their own accord?

Mother' First one?

Yes.

Mother' The first child? 

Yes
 

Eight months after the bone marrow transplant their 11-year-old son is doing well and needs no...

Eight months after the bone marrow transplant their 11-year-old son is doing well and needs no...

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English translation, video and audio clips in Sylheti. 

So, how many years ago did the transplant take place?

Mother' How many years'well it took place in September' 

Father' We lived in separate accommodation to look after him properly; he was in hospital for a long time, we took care of him separately. 

When in the hospital?

Father' yes

Mother' There was a separate room'

They gave it?

Father' yes

What did you do with your baby?

Mother' She was with my mum'

Father' Sometimes she stayed with us. Or stayed with grandparents a lot.

Mother' Yes sometimes she stayed with us for a few days. 

Father' They helped a lot

Mother' I have a sister-in-law; she has always been very helpful. 

Father' So during his treatment, it was important for us to be with him all the time, it gave him hope and made him feel brave. Also, with our presence, it meant that we were always in touch with his medical progress, changes to treatment plan, medication etc. We have received immense help from the medical professionals. They always kept us informed. They told us about his blood count and this kept us going. If sometimes it went wrong, they have taken immediate measure to control it. I mean, all fate is within Allah's hands, but with the advance of medicine, when new treatments/medicines become available, you should try it. It's invented for the patients. For the sake of the patient, for our son, we tried it.

How long was your son in hospital?

Mother' About 5 to 6 weeks. 

When did you find out that everything was ok, that the treatment was successful?

Mother' Well, its ongoing'

Father' There's a report

Did they let you know immediately?

Mother' No not immediately, about a year.

One year? The year isn't over then.

Mother' No, not yet. 

Nonetheless, is he ok?

Mother' Yes'

Father' Yes, god willing he is fine, even you saw him earlier.

Yes, thank god. 

Father' But he has a report. And the doctor briefs us regularly about this report and from this, we are hopeful that his prognosis is well. 

Since the treatment, have you

Although beta thalassaemia major is the most common, there are other forms including beta thalassaemia intermedia. This condition is not always straightforward to diagnose. People with beta thalassaemia intermedia inherit a thalassaemia gene from both parents, but for one reason or another may develop a milder form and may in some cases be able to manage without the need for regular transfusions. There are various reasons why some people who have two beta thalassaemia genes produce an adequate amount of blood while others do not. Quite often, however, there is no obvious reason why any given individual turns out to have a milder form; it is possible (though unusual) for the same parents to have one child with beta thalassaemia major and another child who must have inherited the same genes but can do without regular transfusions. Some people with beta thalassaemia intermedia need transfusions at some points in their lives, and may also need occasional chelation therapy to get rid of excess iron, but not on a regular basis. Some may have many complications and may need similar treatment to someone with beta thalassaemia major.

One couple were told their baby would almost certainly have beta thalassaemia major, but he has not yet needed any transfusions, and it is now unclear whether he has beta thalassaemia major or a less severe form of the condition.

 

They were told the baby would have beta thalassaemia major and would almost certainly be...

They were told the baby would have beta thalassaemia major and would almost certainly be...

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Mother' Secondly we were then told that, yes, the baby was, did have thalassaemia major. We were immediately put in touch with the local children's hospital, saw the consultant there who would have taken, take on the baby's care after birth et cetera. And we were advised that it was practically a certainty, 99.9 per cent certain, that the baby would be transfusion-dependent and require therapy from from a sort of fairly early age. About 2, wasn't it?

Father' Well, transfusions from about 6 months.

Mother' 6 months, and --

Father' And then iron therapy as, as the transfusions built up the, the level of iron in the, in the bloodstream. 

Mother' So that was what we were prepared for. The rest of the pregnancy continued completely normally. I had my baby a week late by emergency caesarean. We opted straight away to have the baby, have its immunity for, typhoid?

Father' Well, we had the vitamin K and we also had, yes, the TB.

Mother' TB. Because we were advised that if the baby needed early treatment it would be exposed to a lot of children from different ethnic backgrounds, who would much more likely to have been exposed to TB by family, relatives et cetera et cetera. At, within about a month of the baby's birth, we went to see the consultant at the children's hospital, carried out blood tests et cetera. And straight away the, the first blood tests that were taken confirmed that the baby's haemoglobin level was much higher than they expected it to be. And that has continued to be the case. 

Initially the baby was seen every three months by the consultants. And the haemoglobin level is now at a sort of plateau. The reviews are now back to six months. We're next going in January. And his cons-, the baby's consultant believes that the haemoglobin level has now plateaued, and that if matters stay the same over the next few months, certainly the next one or two reviews, then the baby will probably reach puberty without needing transfusions and therefore the, the iron therapy. So all in all it's a much better outcome than we ever expected to have. And we've been advised that, should we have more children, which we would like to do, then they won't be at any, they won't have any greater effect of the condition than our baby has now.

Have they actually revised the diagnosis from major? Have they, is it still beta thalassaemia major?

Mother' It, unofficially the consultant has said intermedia. But we haven't as it were had anything in writing. 

Father' I think what they've said to us really is 'intermedia' is such a loose term and I don't think everybody agrees on exactly what constitutes intermedia.

But they think he's probably within that sort of 5, 3 to 5 per cent of children who largely manage on, on a low haemoglobin. And to be honest his haemoglobin level is lower than mine. I don't know what mine was as a child, but mine is quite low and his is lower. But he's functioning very well without any, without any intervention at the moment.

E beta thalassaemia, where the child has inherited the thalassaemia gene from one parent and haemoglobin E from the other parent, can take several forms. In some people it results in severe anaemia and requires regular transfusions, whereas other people have a mild or moderate form and some may not need transfusions. It is not always possible to predict which individuals will have mild or more severe forms of the condition. 

Sickle beta thalassaemia occurs when the child inherits the thalassaemia gene from one parent and haemoglobin S (sickle cell) from the other parent. There are two types: sickle beta zero thalassemia (HbS β0 thalassaemia) which is similar to sickle cell disease (Hb SS) and sickle beta plus thalassemia (HbS β+thalassaemia) which is usually mild. Children with sickle beta zero thalassaemia (HbS β0 thalassaemia) have an increased risk of pneumococcal infection, and need to take antibiotics (penicillin) daily (see also ‘Living with sickle cell disorders’). A few people with the condition may remain healthy, but most have mild anaemia and may have pain from time to time.

More information about the symptoms, types and management of thalassaemia can be found on the UK Thalassaemia Society website and NHS choices website. The APoGi website (Accessible Publishing of Genetic Information) also has information about different combinations of gene variants. See also 'Seeing other family members/friends' experiences'.

Last reviewed December 2018.
Last updated December 2018.

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