Imagine being born with a rare blood disorder that requires regular blood transfusions and medical attention. Couple that with extra treatment five nights of the week, lasting a staggering twelve hours at a time. For sufferers of disorders such as thalassaemia, sickle cell disease and myelodysplastic syndromes (MDS) this can sadly be a way of life.

Approximately 10,000 people in the UK suffer from these chronic blood disorders and a large number require frequent blood transfusions. The body cannot eliminate the extra iron received through these transfusions, so an excess amount of iron builds up, resulting in iron overload. Over time, iron overload left undiagnosed and untreated can lead to debilitating and life-threatening consequences, including damage to the liver, heart and endocrine glands.

The method of decreasing iron is to remove it by a process called chelation. The most common way of doing this is a nightly infusion by needle and pump and can last from 8 to 12 hours every night for 5 to 7 nights a week. As a result, many patients stop or avoid iron chelation, exposing themselves to the dangers of iron overload.

H: Mark Reyes, host
F: Dr Farrukh Shah, Consultant Haematologist
C: Carol Wosey

Hello I’m Mark Rise, welcome to today’s Health Show. Now thousands of people across the UK suffer from blood disorders that may mean regular blood transfusions for them. For some it means extra treatment five nights a week for up to 12 hours at a time, but this week there’s new hope for sufferers and to talk about the conditions related I’m joined by Dr Faruk Shah, consultant haematologist at the Whittington Hospital NHS Trust. Welcome along to the program Dr Shah

F: Hi

H: What exactly are these conditions and how many people roughly across the UK are affected?

F: Well the condition’s where patients require regular blood transfusions predominantly are thalassaemia major, which is a transfusion-dependent anemia, children are diagnosed very early on in life and start blood transfusions usually within the first year of life –

H: And so how many transfusions are we talking?

F: A transfusion once a month, sometimes every fortnight depending on how anemic they are, the other conditions obviously are sickle cell anemia which is again another inherited blood disorder, which is associated with quite severe complications and to prevent some of those complications occurring in high risk patients, we put them onto transfusion programs and they also develop complications from blood transfusions. And then the last group of patients are those with myelodysplasia – bone marrow failure syndrome that occurs in elderly patients, and those patients require blood transfusions to maintain life and a good quality of life, and if they’re transfused over a period of time they will also get quite significant iron overload which often isn’t treated because of their age

H: How many people across the UK are we talking?

F: Talking somewhere in the region of about 10-15,000 patients across the UK. The bulk of those are sickle cell anemia and around 10% of the patients with sickle cell anemia will require transfusion

H: And transfusion is the main treatment isn’t it?

F: Transfusion and generally looking after yourself well, doing your collation therapy to help remove iron, those are the main stays of treatment

H: Well the iron that you talk about is the real double whammy of this treatment, because when you have a blood transfusion you can get in iron overload, so too much iron in your blood can be quite dangerous – what are the implications if it’s not treated?

F: Well iron overload is the main reason why patients with thalassaemia die, unfortunately, and also quite a lot of the elderly myelodysplasic patients. Iron overload can cause heart failure if it enters into your heart and that occurs at very high burdens, but also you can get liver failure, you can become diabetic, you can develop problems with your other endocrine glands and develop osteoporosis, infertility, and a range of other complications

H: So really serious disease can come from the iron overload. How do you treat that in patients these days?

F: Well at the moment we use a drug called Desferal which is given as a infusion over 12 hours each night and five nights a week

H: So you’re talking an injection that pumps it into you across 12 hours a night – that sounds horrific

F: It is an incredibly difficult treatment for patients to take, and patients know that if they take it, they won’t develop complications from iron overload but because it is such a difficult treatment to do, many of them struggle immensely with the treatment. They don’t realize the harm that they’re doing if they don’t do their treatment, they feel perfectly well, and it’s a very easy thing to avoid doing is to put the needle in every night ,and a lot of them do avoid it and then come to their hospital with symptoms of heart failure and we’re talking about people aged 20, 25, 15 – you know very very young people

H: I guess you can understand that, they’re young people, they’re having an active life, they don’t want to be trapped in this treatment 5 nights a week – you can kind of understand it

F: I know, absolutely it’s a huge burden on both the patient themselves and their families and has a huge psychological impact on how they perceive themselves and how they feel in comparison to their peers. So going to work, having a sex life, going to school, playing sports are all impacted on by their treatment

H: And so whose affected because these are genetic blood disorders, what’s the genetic line, which groups are affected?

F: Well thalassaemia predominantly occurs in the Mediterranean population but also in the Asian and South East Asian population and worldwide there’s a huge thalassaemia burden, in the UK around about 79% of the children that are born are actually born in Asian families and we have around about 800 patients with thalassaemia comprising Arabic, Greek, Turkish, Cypriot, Italian and Asian patients. But we also have white Caucasian patients

H: That’s what I was going to ask which for me seems slightly more unusual but it’s a genetic line that goes back much further isn’t it?

F: Absolutely, I mean the United Kingdom, we’re very fortunate that we’re in a multi-cultural, multi-racial society –

H: Absolutely

F: And our genetic roots in the UK go back through the Roman empire and all the other people who have come across along with the Spanish Armada, and a lot of people bought along thalassaemia trait which is the inherited condition that leads to thalassaemia major, and because of that and them being distributed in the population it’s actually quite prevalent in the white Caucasian population as well, and because you don’t know what happened 600 years ago you don’t know you’re a carrier

H: But how difficult is it that – for the various ethnic groups and the white Caucasian people that have these blood disorders, how easy or difficult is it for them to explain to their friends, their peers, their families – that must be really difficult?

F It is a really big problem because certain communities, I mean particularly the Asian community thalassaemia is simply not discussed

H: So it’s a stigma?

F: It’s a stigma, it’s a disease and if you’re a carrier or if you’ve got the disorder it’s quite often hidden and not publicized amongst the families, amongst family and friends, and parents find it very difficult because they find that they’re to blame for giving their child thalassaemia, and it can be a huge burden on the families, both from the point of view of hiding the problem and actually having to attend the hospital all the time

H: Thank you for that for the moment. If you would like to ask a question about any of these blood disorders, maybe you’ve come across them, maybe you’re a sufferer yourself, then please do get in touch with the program this afternoon. Basically if you go to the bottom of the screen and you can input your name and your question, it will come through to us here in the studio and we will answer some of your questions, so please do feel free to get involved. Now I can show you a short film now of Martha whose a sufferer and to show you exactly how the condition can affect your everyday life – take a look at this

“I was about 3 months old when I was first diagnosed with thalassaemia, I looked quite jaundiced I was quite lethargic, didn’t have an appetite….we have to have regular blood transfusions and blood contains a lot of iron so five nights a week I have to inject myself basically that acts as a collator and that takes away the iron from my blood and my organs….i have a pump and it works via gravity and there’s like a little balloon in it and it works by injecting myself….it is quite painful, I mean the needle’s only tiny but if you think about it you’ve got this needle in your belly for 24 hours – the skin around the area where the needle is gets quite hard and gets quite sore really….what would make my life better is not having injections everyday. My treatment is regular blood transfusions which I can cope with that, having it once every three weeks, but having a pump every day and having it with me, on me, attached to me is a nightmare. How easy is it to have a tablet you know or dilute something in water or some orange juice or whatever, I mean how easy is that to take every day than to spend even though it’s only a few minutes of a day fixing up my injections. Living with thalassaemia personally it has to be kind of mind over matter. You’ve got to stay positive and stay strong, but my life isn’t on hold, I have to carry on.”

H: Well I think you can see there just how intrusive the iron collation therapy can be, and one lady who knows about it all too well is Carol Wosey whose son has sickle cell disease, Carol welcome to the program – Danny is your son, how old is he and when did you first realize that he had sickle cell?

C: He is 9 years old now, we discovered he had sickle cell when he was about a week old

H: Oh so you’ve known right from the very beginning then?

C: Yes

H: So does that mean he’s had to have treatment and transfusions right from being a baby?

C: No no no, he started to show symptoms of sickle cell from 3 months where he had what’s called dactylitis, he had swollen fingers and swollen toes, and unfortunately from there it just sort of spiraled, and every 4-6 weeks he used to have what’s called a painful crisis, where he’s in a lot of pain and he used to have all sorts of infections and a lot of hospital admissions –

H: As a mum that must just tear you apart?

C: Oh yes definitely – it was something that I didn’t really want, you know nobody wants a sickly child

H: No

C: So to speak but it happened and it happened and I just had to try my best to find out as much as I could about sickle cell so that I could look after him properly and to also learn about the signs of what to watch out for

H: So what’s his main treatment been over the time up to now?

C: Over the years he’s been on antibiotics, sickle cell patients are normally placed on penicillin which helps them to fight infection. They also have a booster pneumococcal vaccine as well, so it’s been the penicillin and then depending on how his pain is we have different painkillers that we give him. If it gets too much and we’re not able to manage it at home then we take him to the hospital and they, you know, give him treatment there

H: And of course there are problems with the transfusions that he’s had to have because of the iron build up – so has he had to use the pump as well?

C: Yes, yes – it wasn’t from the beginning, it was after he had a stroke when he was six years old, he had a stroke, so after he had the stroke he had to go on to the blood transfusion program which was to help prevent further strokes happening

H: As a young child did he understand why, because he’s got siblings, he’s got brothers and sisters hasn’t he?

C: Yes yes he has – no he –

H: Did he get the whole reason –

C: Didn’t understand, he’s too young so he didn’t understand anything. I tried to explain to him as much as possible, I tried to get information from the doctors, ask questions and then break it down for him to understand how important it was for him to have the blood transfusions, and he also saw other children having blood transfusions so you know they make it in such a way that they’re playing games as well as having the blood transfusions, so the time goes by you know so he knew he had to have it every month and he sort of accepted it

H: Now there’s been a real breakthrough and today we’re talking about the breakthrough that has just happened in the form of a drug called Exjade, now your son Danny was lucky enough to be in part of the –

C: Trials

H: The clinical trials for it, how has that helped, how has that changed?

C: It’s been really really life-changing, it’s been a great relief for both of us, mainly because the way the old Desferal was used was quite intrusive, I had to stick a needle in his stomach five days, five days a week and he didn’t like it, I didn’t like it –

H: No child, no adult would – nobody would

C: I’m not a nurse so I didn’t like doing it at all, and he wouldn’t stay still for it to be done, and it was really hard you know just doing it, sometimes he’s crying “mummy please don’t, mummy please don’t” and it’s so heart-breaking that sometimes I’d just say ok we won’t do it tonight, and I know that it’s not good for him that I’m leaving it but as a mother I couldn’t bring myself some days to even do it, and then on top of it all I had carpal tunnel syndrome where I couldn’t draw up the – make up the solution, you know to put in, so some days I wouldn’t do it because of my health, sometimes I wouldn’t do it because of how he was, so when Exjade came along it was like a miracle drug to us

H: Well I think you can see, I think you can see what a terrible toll the old treatment was and there is real hope for sufferers now. It is the form of a tablet, a daily tablet called “Exjade” for the treatment of iron overload after transfusions, Dr Shah let me come back to you – can you tell us about this breakthrough drug how has it come about, what have the trials been? It sounds like a miracle

F: Well it’s an incredible advance in the treatment options we now have for our patients. The drug’s been in development since 1999, it started phase 1 pre-clinical trials at that point. It was number 670 out of 700 compounds that Nevartist tested, and lo and behold this one was the effective one. Since that time it’s gone through very extensive, almost unprecedented pre-clinical and clinical work-up –

H: There’s been an awful lot of people involved in these clinical –

F: 3000 yes, 3000 patients worldwide, the licensing drug trial actually had 580-odd patients in it, which is a huge number of patients for a rare condition. And so far to date we’ve got 3 years worth of follow-up data on these 3000 patients, with very good clinical outcomes, showing that it’s as good as the previous therapy

H: Oh so literally it can replace the previous therapy, so Exjade will, without a shadow of a doubt, improve the quality of life of people with these blood disorders?

F: No question about that at all I think, compared to taking a drip every night over 12 hours to taking a drink of orange juice in the morning, there’s no comparison

H: And I think as we heard from you Carol, we heard the real toll that it took on you, on your son and family life, I mean really this will make a huge change won’t it?

C: A huge change, he can now go for sleepovers which was a major thing! He couldn’t go to his cousin’s house to sleep because they had to know how to put the needle in and all that, and it wasn’t something that I could put on somebody else, no matter my sister or whatever, but now he’s much freer, he just has his tablet in the morning and that’s it, that’s it no more worries, no more needles

H: For a nine year old now, that – I mean for him he must notice the huge change. Does he understand the change and why it’s happened? I suspect not at this age

C: He did have a leaflet before he started went onto the trial, they did do a leaflet that broke it down for children and I gave it to him to read and I said to him “do you want to go on this?” He said “what do you think mummy?” So that was it –

H: I suspect mummy said yes – if it works it will be a great idea. We’ve had some questions coming in here in the studio, but please still do send them in. If you want to get involved in the discussion in the program today, all you’ve got to do is go to the bottom of the screen, tell us your name and your question and then push the submit button. It’s as simple as that to get involved with the Health show and I have got a question in, Dr Shah right now from Leyla – Leyla wants to know “are blood disorders a problem – an increasing problem in the west or is it all over the world?”

F: It’s all over the world, the biggest disease burden is obviously in south East Asia and in Africa but because of migration and because a lot of communities have actually settled in western countries, it is now an increasing problem. So the United Kingdom has an increasing population of thalassaemia and sickle patients

H: And this actually sinks into Otis’s question quite well because he wants to know are blood disorders increasing or decreasing? So in the UK unfortunate news then?

F: Yes it is increasing, and we are working very hard at ante-natal screening and neo-natal prevention programs to help reduce the number of births with sickle and with thalassaemia. Unfortunately it is a difficult thing to do, to target communities where for many issues people are not prepared to have terminations of pregnancy because of an affected baby, so you –

H: So you might know if two parents are carriers anyway, so the likelihood would be higher?

F: Yes I mean what we recommend with the ante-natal screening program is that if two parents are carriers and they’re at high risk, then they should go for pre-conception well not pre-conception but post-conception screening to see whether that baby is an affected baby, and then those families are given the option of termination of a pregnancy or to continue with a pregnancy

H: A terrible, harsh decision for a family

F: Very, very emotionally distressing decisions to take, and I really, you know my heart bleeds for some of the decisions that families do have to make for this kind of a disorder

H: Germaine has sent us a question, she wants to know if you could go through the different kind of blood disorders that we’re really talking about now, the different forms – and we can do that quite easily because it breaks down relatively well doesn’t it?

F: It does do, the conditions that Carol’s son has is sickle cell anemia which is an inherited blood disorder. Two people who carry sickle cell anemia or a gene which interacts with sickle cell anemia can have a child that’s affected, so 25% chance with every pregnancy that the child will be affected. And it causes a terribly painful condition – basically the red blood cells become deformed, they look like a sickle – and hence the name sickle cell –

H: Yes it’s almost like a moon shape –

F: It’s almost like a moon shape, absolutely. And what happens then is that those cells are very rigid and they go into the small blood vessels in different parts of the body, predominantly the bones, the lung, the kidney and they can then cause that bit of tissue to which that blood supply went to die, because of the blockage in that blood vessel

H: So in effect it blocks the blood vessels?

F: Absolutely and it causes a pain that is very similar to the pain that a patient has when they have a heart attack, a very very profound and severe pain associated with swelling, and the pain killers we have just take the edge away from the pain, but they don’t ever remove the pain

H: Yes I thought it was particularly moving Carol when you were talking about the amount of painkillers that your son Danny had to have. From the genetic side of what you were talking about, Carol this means that you’re a carrier and your husband was a carrier?

C: That’s right

H: Did you know that beforehand?

C: I did, but I was already pregnant with my first son before I discovered that I was a carrier

H: And you have other children who aren’t affected don’t you?

C: They’re not affected but they’re carriers as well

H: They’re carriers as well, and I guess that’s what families have to be aware of Dr Shah the whole time?

F: Absolutely and with thalassaemia we have an even bigger problem because it is in the Asian communities to a large degree in the United Kingdom, and there’s a lot of taboo around speaking about whether you’re a carrier or not and the way the marriage systems are in Asian societies, most of the people go through arranged marriages and then thalassaemia carriage is not disclosed, because people are worried about what will happen to that proposed match. And then we find that we have a lot of high risk couples, both parents, both partners are carriers and then they then have to go through all that trauma of becoming pregnant and having to have terminations, and we really do need to target awareness I think in the communities that are at high risk –

H: And that’s one of the things that we’re doing today, I’ve had an interesting question in from Lucy, Lucy wants to know – she understands that the blood transfusions cause iron overload, but why is that a bad thing, what can that cause?

F: Well recently I had a patient come to my clinic, he’d not done his treatment for about 3 years, and was maybe doing it once or twice a month, because it was difficult, he was working –

H: Whereas he should have been doing it 5 days a week?

F: 5 days a week, and he came to me and he had – he couldn’t go up a flight of stairs, he was getting short of breath as soon as he went upstairs to the bathroom, he’d noticed that his legs were swelling –

H: But apart from that a relatively fit, healthy individual?

F: Fit, healthy – 25 year old young man, and when I examined him it was very clear that he had heart failure because of iron in his heart, and that is the real problem with iron overload, it can make you diabetic, it will give you heart failure, it can give you liver failure – and those are the things that kill patients and we’re talking about very young people who are dying from things that they do not need to die of, because the treatment is so difficult to do

H: Question’s just come in from Juan saying “can you develop blood diseases or are you always born with them?”

F: That’s incredibly important, now you, myself, Carol – any one of us, any one of the audience could develop a bone marrow failure syndrome at any time in their life, but predominantly when they’re older. There is a condition called myleodysplaia, about 3000 patients per year are diagnosed in the United Kingdom with myleodysplaia, and these are elderly people who require blood transfusions to maintain life, in a very similar fashion to the thalassaemia patients. Those patients are often not treated for iron overload because they’re elderly, they’re 60 plus and it’s very difficult to ask someone –

H: The invasive treatment would just be too much for them wouldn’t it?

F: Yes someone whose of that age to suddenly start to put a needle into their tummy every night, and a very small number of patients with myleodysplaia do collation of therapy, but the vast majority will die of iron overload, maybe at the age of 70 or 75 when they didn’t have to die at that age

H: So Exjade for these people is a real breakthrough, it’s a mammoth step forward. Let me just make very clear, now Exjade isn’t a cure for the actual disease, it’s a cure for the iron overload which can lead onto so many other dreadful diseases, as we’ve just heard. We’ll come back to what that really means in just a moment’s time, but I’ve got a good question in from Loretta, thanks for sending it in Loretta – “are there particular types of people more susceptible to developing blood disorders?

F: Well developing blood disorders it could be anybody. So any one of us can have it coming up when we’re in our 50s and 60s. People with the inherited disorders are born with – and those occur with families where there’s a high risk, so two partners who carry a hereditary trait which will predispose them to having a child with an inherited blood disorder. So you cannot develop it out of the blue and most people will develop myleodysplaia, the bone marrow failure syndrome, when they are older

H: Question’s just come in from Jennifer, thank you Jennifer, and one that I’m sure a lot of mothers would ask “can I breastfeed if I have thalassaemia?”

F: The answer is yes, you can

H: Good news that then

F: And we’re very pleased to see that you know we do have thalassaemia major patients, adults who have children and our girls do breastfeed their children – the only issue obviously is collation treatment and if they are breastfeeding we recommend that they use the Desferal balloon infuser pumps rather than the tablets because we’re not very happy with the idea of having chemicals going in through the breast milk, whereas with the Desferal we know that that won’t happen

H: Ok, question in from Jim now – he says “how can I control the level of iron in my blood?” Not quite sure what you mean there necessarily, Jim – whether he’s a sufferer or not. Let’s start of with if he’s not a sufferer does he need to control the level of iron in his blood?

F: If he’s not a sufferer there’s no problem at all

H: Fine but then if he is we’re talking the old form of treatment with the injections every night and the therapy that lasts 12 hours – I mean really invasive therapy and now this incredible new drug Exjade

F: I mean if he is a sufferer then obviously we’ll be keeping a very close – the centre he’s looked after will be keeping a very close eye on his iron burdens, and he will be receiving collation therapy, probably at this moment in the form of Desferal, and as the drug is now available he can speak to his clinician and asked to be changed over to Exjade

H: This is really important – the drug is now available, it’s only been made available this week – does that mean that everybody whose doctor says that they should be able to get it will then check with their NHS trust and they will be able to get Exjade on the NHS?

F: Yes well all of the trust that look after patients with thalassaemia will be in discussion at the moment with their pharmacy departments and with the primary care trust that they are dealing with on a regular basis to ensure funding for this treatment. Now the patients currently receiving Desferal, it’s a very expensive treatment and this new medication is going to be around about the same cost as the old Desferal, so most people are not going to have problems switching over to an oral formulation

H: So in theory the NHS trust should be fine because the cost is about the same as the old treatment anyway, which is great news obviously because we hear a lot about new drugs coming on being much more expensive and they’re subsequently not available. That’s not the case with Exjade, that’s brilliant. Now Carol you mentioned that your son Danny had a stroke and we’ve had a question in from Dawn who wants to know Dr Shah “do many children with sickle cell have strokes at some point?”

F: This is a really important question and we do see a number of children with severe sickle cell disease who have stroke, but there’s recently been publications about silent strokes which are not diagnosed clinically and it is felt that there’s around 20% of people with sickle cell disease who have silent strokes, so strokes but they’re never diagnosed, they’re only ever picked up at an older age on an MRI scan. Currently there’s studies going on looking at the incidence of silent strokes in people with sickle cell anemia and many centres throughout London and the UK are involved in that research, and hopefully we’ll have more data on that, but we certainly know that blood transfusions will prevent new strokes from occurring in these high risk patients

H: There’s a website that people can go to, various websites actually which you’ve got the details of, if people and I’m sure people will want to know more details both about Exjade and about the subject in total, can you give us the websites that we ought to go to?

F: Yes I mean the Sickle Cell Society has a very good website and it is www.sicklecellsociety.org so that’s a good society to go to –

H: So sicklecellsociety.org is one of the ones to go to, excellent stuff

F: And then there’s thalassaemia.org which is the Thalassaemia Society website, but ther’s also the United Kingdom Thalassaemia Society website as well, both of which will have some information on Exjade and then Novartis Pharmaceuticals have actually generated –

H: They’re the developer of Exjade?

F: They’re the developer of Exjade and they’ve actually developed a website for Exjade which provides information for both patients and clinicians, as well as updates on what’s happening with the clinical trials at the moment

H: But I guess at the end of the day if you’re a sufferer or the parent of a sufferer you would go and talk to your regular doctor?

F: Without a doubt, the person whose going to be involved in the decision making, when to switch to Exjade is going to be the clinician and there is nothing more important than having a good relationship and a good discussion with your clinician about whether you will benefit from this treatment

H: A question’s just come in from Jessie, Jessie wants to know “is there an easier way than collation to clean blood?”

F: Unfortunately not, I’d love it if there was

H: And that I guess is the next step of your career, the next step of your research that goes on, because the research continues doesn’t it?

F: It does without a doubt

H: Carol let’s talk about how this has changed Danny’s life and how this will change Danny’s life moving forward, he’s 9 years old, he had some good news today because he’s just been discharged from hospital today hasn’t he?

C: That’s right yes

H: Excellent stuff, well we wish him all the very best – how do you think this will develop his quality of life, the fact that he’s now on Exjade?

C: I think it would help a lot because a lot of teenagers, it’s when the children become teenagers, that’s when they start not to drink their medicine, that’s when they become non-compliant with their medication, they just want to be like their peer groups, so with the Exjade it’s easy for him before he wants to do anything to just have that in the morning with his other tablets, and it’s not going to interfere with his social life, if he wants to go out with friends in the evening, if he wants to sleepover at his friends house, he doesn’t have to carry a pump with him, and peer pressure as well, he wants to be like other children

H: Of course, of course

C: He doesn’t want to be associated with an illness or have people pointing asking “what’s that, what’s that for?”

H: Exactly, well Carol –

C: You know those sorts of questions

H: Sue from Suffolk has just got in contact with us, she says “I really commend Carol on her dedication to her son, where do you get your strength from, is it faith – where do you draw the strength from?”

C: It’s God, it’s been really hard but God has seen me through and given me the strength. It’s not easy but –

H: I’m sure it’s not, but this Exjade development is one way forward and we wish both you –

C: It’s a miracle

H: And Danny the very best of luck for the future –

C: Thank you very much

H: Thank you so much for joining us, and Dr Shah thank you so much for coming in and telling us both about the blood disease and Exjade as well, thank you. I hope you’ll all join us again on the Health Show very soon, here. Bye bye.

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