Screening for sickle cell and beta thalassaemia
What kinds of information do people want?
People facing decisions about screening and diagnosis for sickle cell and beta thalassaemia will differ greatly in their previous knowledge, and also in their personal preferences for the amount and type of additional information they want. Identifying and responding to these individual preferences is a key task for health professionals.
Here we examine some of the commonly expressed information requests, and also some differing views.
Information about inheritance and being a carrier
The most pressing information need is to explain to people that carriers are healthy and do not have the condition, and that the baby is only at risk if both parents are carriers. This is important for two reasons. Firstly, people who discover that they or their baby are carriers need to be reassured that they are not ill. Secondly, it is important for explaining to people why partner screening is recommended. Some partners felt they could not be a carrier if they were fit and healthy and so did not think they needed to be screened. (See 'Partner carrier screening').
Although most people who are carriers are generally in good health, there are some possible health effects they need to be aware of. There is a risk to sickle cell carriers of "sickling" under situations of very severe oxygen deprivation. Anaesthetics can cause problems. If you are a sickle cell carrier always notify your dentist or doctor before treatment starts to be on the safe side. “There is a small chance that you may experience pain at high altitudes (generally above 10,000 feet), including long-haul flying in unpressurised planes and mountain climbing. It is important you say you have sickle cell trait before undertaking such activities as you may need to breathe oxygen. Extreme exercise may also precipitate problems and if you are a professional athlete you should have a training programme that takes account of this.” (Sickle Cell Society Dec 2018). These problems do not apply to carriers of other unusual haemoglobins.
A few people who are beta thalassaemia carriers find they get tired and anaemic sometimes. This has no serious effect on the person's health, but it may help their doctor to know they are a carrier. Some women who carry beta thalassaemia become more anaemic when they get pregnant. Carriers of beta thalassaemia need a special blood test (serum iron or serum ferritin test) to diagnose iron deficiency and should only take iron medicines if this test shows a shortage of iron in the blood. If a doctor does not know that a person is a beta thalassaemia carrier they could prescribe iron medicines which could in the long run do more harm than good.
Professional learning: She has been advised that her iron levels need careful monitoring during...
Professional learning: She has been advised that her iron levels need careful monitoring during...
Has anybody kind of tried to explain that to you or?
Not, not really, I mean, you know, you ask different, I mean different midwives say different things. But the last two I've spoken to, they've sort of said the same thing. I mean, you can live with it but it might make you a bit tired, and obviously your iron levels are lower than someone else, you know. Because my mum has got the same thing really. She gets very tired a lot, and I think it's to do with her iron, because obviously she's got that as well.
Footnote' Although being a carrier does not generally affect your health, beta thalassaemia carriers may become more tired and anaemic than people who are not carriers, but they need a special serum ferritin test to determine their iron levels, before any iron is prescribed. This is particularly important during pregnancy. If a doctor does not know that a person is a beta thalassaemia carrier they could prescribe iron medicines which, in the long run, could do more harm than good. It is therefore useful to have a card to show to health professionals stating that the person is a carrier.
For these reasons, carriers are usually advised to carry a 'haemoglobinopathy' card to show to health professionals, stating that they are a carrier. Some people we talked to still had unanswered questions about being a carrier or about why they should carry a card, even though they understood that in general their health would not be affected.
Professional learning: She has had breathing problems when diving or at high altitudes, and...
Professional learning: She has had breathing problems when diving or at high altitudes, and...
So you didn't get referred to a specialist counsellor?
No. I just got a card, a small pink card and I got one for my daughter as well, saying that we had sickle cell trait and that's it.
Footnote' Generally a person's health is not affected by being a carrier. There is a risk to sickle cell carriers of 'sickling' under situations of very severe oxygen deprivation. The situation that people are most likely to encounter is oxygen deprivation during anaesthesia. If deep sea diving or mountain climbing the individual should make sure that they are well oxygenated but they do not have to avoid these activities. Carriers of a sickle cell disorders can have normal blood transfusions.
She can't see why she should keep a card with her saying she is a carrier. (Read by an actor.)
She can't see why she should keep a card with her saying she is a carrier. (Read by an actor.)
Video and audio clips read by an actor.
I get a card every so often, to carry with me, to say that I have it, that I chuck in the bin every so often it comes. Because they don't believe it, what's the point in carrying it around with you? And even if you do carry it around with you what, I don't understand what for? It's not going to make any difference, really. If I'm in an accident, they says to you, “Carry it around with you at all times, it's required.” Why? If I have an accident who needs to know that I've got the thalassaemia trait? If I'm in A&E they don't really need to know I've got the trait, to be honest with you.
Footnote' Although being a carrier does not generally affect your health, beta thalassaemia carriers may become more tired and anaemic than people who are not carriers, but they need a special serum ferritin test to determine their iron levels, before any iron is prescribed. If a doctor does not know that a person is a beta thalassaemia carrier they could prescribe iron medicines which, in the long run, could do more harm than good. It is therefore useful to have a card to show to health professionals stating that the person is a carrier.
Some women wondered whether they were anaemic in pregnancy because they were sickle cell carriers. There is no evidence that this is the case, and women may need reassurance to prevent them feeling anxious.
Professional learning: She was anaemic in pregnancy, and wonders if that was because she is a...
Professional learning: She was anaemic in pregnancy, and wonders if that was because she is a...
Footnote' Being anaemic during pregnancy does not affect the baby's chances of inheriting haemoglobin S and therefore being a sickle cell carrier. There is no evidence that a mother who is a sickle cell carrier is at increased risk of anaemia in pregnancy.
It may help some parents to be told that being a carrier does have some health advantages. Being a carrier of either condition offers some protection against malaria, and there is some evidence that being a thalassaemia carrier reduces the risk of coronary heart disease.
Information about the conditions
Some people had heard of sickle cell disorders or beta thalassaemia major before screening, while others had not, or knew very little. Several people said they had believed people with sickle cell anaemia rarely survive into their twenties. (See also the section on 'Understanding the conditions'). One man described how his counsellor could compare experiences in Africa and Europe, and explain the difference good medical care can make.
Professional learning: The sickle cell counsellor explained that advances in medical care have...
Professional learning: The sickle cell counsellor explained that advances in medical care have...
Yeah, it was, because when I said there was these kind of myths about it, and people tend to be slim and thin, and they don't eat properly and stuff like that, then she said yeah, because no increased medical attention was given, right? So, so she also had that kind of idea, because she's got the African background as well as the European. So she was able to tell that it was because there was no increased medical attention for those people involved. But over here, because of increased medical attention people don't grow that thin and stuff like that, and suffer all the time. Because if you know there's this kind of thing, then obviously medical attention is increased, so the effect is also reduced. So she was able - I think it was good she knows a lot about the condition in Africa. It was good.
Staff have a difficult balance to strike between ensuring people understand the possible severity of the conditions and the complications that their child may face, but also explaining the treatment and support available to give people the best possible quality of life. This task is made all the more difficult because the impact of the conditions on each individual is unpredictable.
One mother who herself has SC disorder felt staff could have given her more positive examples of people with sickle cell anaemia living fulfilling lives and managing their condition well. (See 'Advising people about their options'). However, she also agreed with most people's view that it was important to 'know the worst' - to have a clear explanation of all the possible outcomes, even if it was painful at the time.
Professional learning: It is important that people understand fully the risks they face, but it...
Professional learning: It is important that people understand fully the risks they face, but it...
Video and audio clips read by an actor.
Yeah, for healthcare professionals, yeah it's good for them to let people know about the risks. Because I mean someone might say, “Why didn't you tell me that?” I mean, in this day and age if you don't tell people all the things, you know, they might sue you that you didn't tell them this and that, you know. So it's good to present things to people, but still let them know that there is always a hope, you know?
But some people found it difficult to absorb the information and realise its significance, as one Bangladeshi mother explained.
Professional learning: When she was first told about beta thalassaemia, she didn't realise how...
Professional learning: When she was first told about beta thalassaemia, she didn't realise how...
Mother' I got married in 1994.
1994?
Mother' Yes. After marriage I became pregnant and came to the UK by myself. My parents came before that. As I was pregnant I went for a test. They took my blood for tests to see if I was anaemic as I have just come from Bangladesh and felt weak. Having tested the blood they advised me to go to a clinic. Then they informed that I have the trait [beta thalassaemia carrier]. They also asked if my husband had the trait as well.
They found you to have the trait at that time?
Mother' Yes. My father had the trait
Your father?
Mother' Yes. That is why they asked me to get other members of the family tested. Now, I have the trait, my father has it. But my mother doesn't. My brother has the trait as well. Recently my sister was diagnosed to have the trait too. Then they asked me if I married within my own family. Then I said yes. They did not do anything more, as my husband was in Bangladesh at that time and testing was not possible. Thinking now it would have been better to go for more tests, to check how well the child is, when it happens to yourself. They informed me that there is a chance to have the illness [beta thalassaemia major] if you marry within the same family. After that, they didn't really do much.
Did you understand at that time what having the trait meant?
Mother' No not really, they explained what happens if children have the trait, that you'll have to be given blood [if the baby has the condition], and I was young then and did not take it so seriously. I was not sure that after the birth the child would require transfusions, and after that the iron levels would be high, and with high iron levels what could happen to the child. I did not know what all these meant. I did not take it so seriously.
Your father, having the trait, was there any problem?
Mother' No not really, they said that it could be in the same generation or others might have trait as well. At that time they weren't so advanced. I saw previous traits and I heard of things, they weren't improved. Slowly things did improve. I'm talking about 11 years ago. At that time they did not know so much as they do now. All that they knew was where the trait comes from in a generation and it's passed on from the family.
One father wanted to talk to someone who could tell him at first-hand about their experiences, but it was quite difficult to find anyone, even with the help of a local support group.
Professional learning: He wanted information about other people's personal experiences as well as...
Professional learning: He wanted information about other people's personal experiences as well as...
Father' I mean, I tried the beta - there's a beta sickle cell organisation.
The UK Thalassaemia Society?
Father' Yeah. And they, there's a guy from [city] who, who got the disease and he's trying to phone me up. But I was asking - exactly what this project is for - I was asking, 'Do you know anybody who is in a similar situation who'd been through it, who can talk us through it?' And basically he didn't have a clue. He didn't have, he didn't know any couples either. So, you know, things like this will be exactly what we need, to talk through and to understand and things like that. Because the scientific information is quite, is quite good, but there was no personal experience, or some people that, you know - or something, someone more personal who can talk through, who can explain us the whole process, really. Because at that point I didn't know - you phone an organisation and there's someone picks up and says, 'Yes, yes. Can you phone this person in [city]?' And this guy phoned up and said, 'Yes, yes, but I don't have any sort of couple experience or things like that.' So in the end we just had this scientific information. But if I knew this website [DIPEx] a bit earlier that would, you know, that'd be useful. But I did a search and there was nothing like that comes up at all.
Another couple did get in touch with a man with beta thalassaemia major after prenatal diagnosis showed their unborn baby was affected, but they were wary about how relevant other families' experiences would be for their own situation.
Professional learning: It was helpful hearing from a man who had beta thalassaemia major, but...
Professional learning: It was helpful hearing from a man who had beta thalassaemia major, but...
Whereas once we were told that the baby had, was going to have thalassaemia major, then we did consciously decide to meet with consultants who treated the condition, to meet with the psychologist who worked with children and adults with thalassaemia and sickle cell, to - we didn't get as far as meeting a family who were bringing up children with thalassaemia. And we were asked if we wanted to, but we were told that they would very carefully choose the family that we met, because it could be a very positive experience, or there would be a family who were not coping well and, you know, who this was a massive disaster to in their life. And like everything in life - and it may be trite for us to say it because we've had a very good result - you can, you have to put things in context. And, and we felt that we would be better off waiting to see what happened when our child arrived and then deciding whether or not we wanted to speak to a family who were further down the line to see if we wanted to share from their experience.
Although in some ways they wanted to 'know the worst', they were also concerned that any information they obtained should be evidence-based and up-to-date. Sometimes they felt, “You can absolutely drive yourself crazy by things that you will read.”
Professional learning: They had lots of detailed questions about how beta thalassaemia major...
Professional learning: They had lots of detailed questions about how beta thalassaemia major...
'How long does a transfusion take? How much pain is the child in? How, how will the child go through its cycle sort of towards the end of the month? Does it feel exhausted, and upset and, and really down?' And there were all those sorts of questions that you just don't know, as well as all the, the sort of long-term medical questions about, 'How will the bones develop? How will the organs develop? Will there be any deformities, facial deformities or general bone deformities? Splenectomies?' All sorts of questions. And if you read through the website and if you read through the Thalassaemia Society's book about thalassaemia, I think I stopped after about the fifth chapter, because you could read it all the way through to the end and think, 'Well, our child might get to the age of 40 and die. So conceivably we may well, we may well outlive our child.' And that was, that was very hard to take.
So I think that I took a conscious decision eventually to stop reading and deal with it as it came up. But I think the screening process is quite, it can be quite a surreal experience because you're asked to make these decisions. And if you've had reasonably good health, if you've had, if as somebody with a minor degree of thalassaemia, if you've got through life without any problems really - just thinking, 'I'll never be a long-distance runner' or, 'I'll always struggle to play a full game of football' - that isn't really a big deal in life. But it is very hard during the sort of screening process to address all the questions, because you do find your mind sort of races away almost to the end of what might happen.
Footnote' This father and the mother are both beta thalassaemia carriers. They 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.
Clarity of information
There were many comments about the need to provide information in clear, understandable language, avoiding complex medical terms if possible, but also ensuring the information was detailed enough to be useful.
Professional learning: The booklet provided by the sickle cell counsellor was detailed and more...
Professional learning: The booklet provided by the sickle cell counsellor was detailed and more...
Video and audio clips read by an actor.
The information from the midwife, it's just a little A4 sheet saying, “Sickle cell is this.” Some little paper booklet thing. So that wasn't really much. But the one I got from the specialist really tells you what sickle cell is, what it does, and to just say more information, how you have to live, what you have to do, massage, when the baby gets ill you have to do this, you have to check the palms and stuff like that… It's just a booklet, that when my son gets ill I go to the book, I go and read the book and see what I have to do, and if I have to call the ambulance or, you know, it just tells you what to do if, in case your son gets sick. But that from the NHS just says, “Sickle cell is this, a disease from the African-Caribbean background and something to do with the blood.” And that's it.
Footnote' The highest prevalence of sickle cell is found amongst Black Caribbeans, Black Africans and Black British. The highest prevalence of beta thalassaemia is found amongst Cypriots, Italians, Greeks, Indians, Pakistanis, Bangladeshis, Chinese and other Asian Groups. But both genes are also found in the northern European population.
Professional learning: He liked the very detailed information provided by ApoGI, but some people...
Professional learning: He liked the very detailed information provided by ApoGI, but some people...
Father' Well, for my part I think - I mean, yeah, I mean my sort of level of education I can sort of cope with that - the APoGI thing. But maybe for, you know, maybe for somebody who's a bit less educated I think it might be - I mean it's clear but maybe something a bit more, maybe a simpler version down. But for me I don't how they can simplify something like that down, but it was quite, quite a heavy booklet really. But for me it was perfect because it was very detailed. But I don't know. The language was fine by me, but I don't know how other people would cope, would read it, yeah.
And in terms of Vietnamese were, did anybody ever offer you at any stage leaflets in Vietnamese?
Father' That's interesting. From my, from our perspective - because I'm quite fluent, - but for maybe other couples it might be useful. Because, you know, from what we understand it's quite specific to south-east Asia, a certain type of, of, you know, people, isn't it? So maybe that APoGI website translated to those relevant groups, that's probably more useful. Because I mean, it's very detailed English, but I don't think English people get this, go through this problem. So in a way it's like, you know, who's it serving, you know? It's not serving the customer, really. So, yeah, I think that's a good idea, if they need to be - I mean this blood type's very specific to Indians, isn't it? Indian and then the Greeks?
Footnote' APoGI (Accessible Publishing of Genetic Information) website is at www.chime.ucl.ac.uk/APoGI/ and has leaflets explaining different gene variants and their implications for couples www.chime.ucl.ac.uk/APoGI/data/html/hb/couples/menu.htm
Professional learning: Most professionals they met were very caring and were doing their best for...
Professional learning: Most professionals they met were very caring and were doing their best for...
But if you don't feel you're, you're getting the absolutely the best treatment or the best advice, I'd urge anybody to talk up. And that's what I say to friends and relatives who are having babies, who haven't had, you know, the pregnancy problems that we've had. But, 'Just don't accept what somebody tells you if you don't agree or understand it, you know. Don't be frightened to ask questions.' And we used to go armed with pages of questions to ask.
See also 'Explaining genetics and risk', 'Communicating results' and 'Sources of support' for further comments on the way information is presented. These comments suggest people like visual aids such as diagrams or videos, and like to be able to discuss the information face-to-face so they can ask questions - if possible in their own language. At the same time, as Interview 09 suggests above, it helps to have written information to keep and refer to as well.
Last reviewed December 2018.
Last updated December 2018.
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