Love life, family planning, and sickle cell.

We asked the sickle cell community to send us their burning questions about their intimate life, family planning and sickle cell. The response was clear - you wanted to hear more about :

- Starting a family while taking hydroxycarbomide
- Priapism
- Fertility and pre pregnancy care and support
- Risks, medications, care and support during pregnancy and while breastfeeding
- Pregnancy and birth with avascular necrosis of the hip 
- Pain and stress caused by intimacy

So we created this podcast episode to answer your questions, share knowledge about the above, and more, and to let you know that you're not alone - others share your concerns, and there are specialists out there who can help and support you.
 
We also delved into IVF and pre implantation genetic testing for people with sickle cell, and how to get this treatment for free.

Use the information in this episode to start conversations with your healthcare team, and get any help and support you need.

In this episode, host Kesewaa Browne is joined by Professor Eugene Oteng-Ntim, a Consultant Obstetrician with over 30 years of experience in the field. 

As an expert in antenatal and postnatal care, Eugene delivers maternity services to women on every level of the health spectrum, and has specialist knowledge in caring for patients who live with sickle cell disorder.

He is head of Obstetrics at Guy’s and St Thomas’ Hospitals in London, and Clinical Director for Women’s Health Services. Eugene is also Professor of Obstetrics at King’s College London.

Professor Eugene became the first black Professor at Guy’s and St Thomas’ Hospital and the first black Professor of Obstetrics at Kings College, London.

Kesewaa Browne is multiplatform Journalist for the BBC, and Assistant Producer and Sport Presenter at Riverside Radio.  Kesewaa has produced a BBC documentary about sickle cell disorder and is passionate about raising the profile of the condition.

We hope you enjoy this episode and learn more about some important topics, which are sometimes a challenge to bring up or discuss with others. Make sure you let us have your feedback, so we can create more of the content you want to see.

For more information:

Watch our animated Priapism video on YouTube : https://bit.ly/3CwC1Vn

Find additional resources about priapism : www.sicklecellsociety.org/priapism/

Learn more about sickle cell screening and testing : www.sicklecellsociety.org/screeningprogramme/

@SickleCellUK
https://www.sicklecellsociety.org/
Charity no. 1046631

Transcript

Transcript : Sickle Cell Society Podcast

Episode 2, January 2025

Love Life, Family Planning and Sickle Cell

Host : Welcome back to the Sickle Cell Society Podcast. We're sponsored by Terumo. Today, we'll be joined by the head of Obstetrics at Guy's and St.Thomas' Hospital, Professor Eugene Oteng- Ntim. I'm your host, Kesewaa Browne. Let's get into it.

So, Eugene, you're a specialist in women's health and sickle cell. I'd love to know what advice you give women who have sickle cell or sickle cell trait when they come to you and say they want to start a family. 

Eugene : Thank you. So, I think I will start off particularly with, women, living with sickle cell disease or with experience of sickle cell disease. Often, we will ensure that, they come knowing or planning pregnancy.

Clearly, in this country, 50% of women will have unplanned pregnancies. So specifically for sickle cell disease, it's important if we can plan it, it ensures that - they may be on certain medications, which we may advise that they stop. It's important that we manage to stabilize their condition very well. So that may mean checking the liver, checking the kidneys, checking the lungs and the heart.

And by and large, if that requires treatment, we will advise that we manage that first before they come into pregnancy. 

Its important certain vaccinations may be given, and that may include chest conditions such as pneumococcal vaccine, flu vaccine, and clearly COVID has gone away, but actually COVID vaccine too. So, any vaccination you can give prior to pregnancy; very, very important. 

When they come into pregnancy, the key thing is to have a multidisciplinary team looking after them. So that may be their haematologist or, doctors who specialise in blood conditions, their obstetrician, and importantly, perhaps a team of midwives or a midwife with knowledge about sickle cell disease.

We then make a clear plan. So sometimes during pregnancy, they may come in in crisis but if we've got a clear plan about their pain management, then any clinician they will come to, they just show them this is my pain management, then within half an hour, that will control their pain and they are not waiting for very long. 

Usually, it's important, particularly in pregnancy, for a senior person to see them within 24 hours. So, ensuring that they get to a place where they will be seen by a senior person in time will make a huge difference. 

We also ensure that the growth of the baby could be well monitored. So, we often from 20 weeks, advise for 4 weekly scans. And we ensure that conditions that may be prevented such as - they are prone to hypertension in pregnancy, having small babies in pregnancy -  we know giving low dose aspirin, 150 milligrams once daily during pregnancy - will improve that by 50, 80%. So that becomes very, very pertinent. And giving anti-clotting medication or assessing who needs anti-clotting medication prevents the risk of clot. That's also very, very life saving. 

So, there is really a lot that we can do for pregnant women who live with the condition; planning pregnancy and during pregnancy. For those who are carriers, it's important to check whether the partner is also a carrier. If the partner is not a carrier, they will usually have a normal pregnancy and behave normally. So, there's no concern at all. We treat them as normal.

If the partner is a carrier, then they have a one in four chance of having an affected child. And again, we will advise that what we call pre implantation genetic diagnosis, that is IVF. And once the egg and the sperm fertilise, the embryos are then identified for which of them have sickle cell disease. We freeze those without sickle cell disease, and we transfer those 1 at a time or, as much as 2 at a time because we want to minimize the risk of twins, and we freeze the rest.

Success I've alluded to is about 63%, and they can always come back for subsequent babies to use those embryos. And actually, the important thing is that it provides, for that child, a generational cure for a long time, particularly if we transfer the ones with AA, then that generation it provides a cure. So, it's actually important to make couples aware of this. Either where they are carriers or where the mother, father may be affected, but with a carrier partner. 

Kesewaa : Thank you for sharing that with me.

And, you spoke about IVF there and that you work with women patients who have gone through this process. But I know that IVF isn't currently free for everyone with sickle cell. So, I'd love to know a bit more. 

Eugene : You are right. Cost may be a barrier to some couples.

What we have argued for is for this to be funded by the NHS, and it is indeed funded for most couples in terms of those who are at risk of having an offspring with sickle cell disease. It's funded if :

1, they have no children at all, and 

2, if they have an affected child. 

So, if they have an unaffected child, then currently, they are not entitled for it, but we are trying to make a case that actually, it should be free for all who are at risk of having an offspring with sickle cell disease.

Kesewaa : Thank you. That sounds really interesting, and I know that you spoke about IVF there and how with this process, it means that generations after might not have sickle cell.

So ,what's the difference between IVF and gene editing?

Eugene :  There is a huge distinction. So, IVF and diagnosing the embryos affected/unaffected is called pre implantation genetic diagnosis. So, before that embryo is transferred, you make sure it hasn't got the affected gene, ie, for sickle cell disease.

So that almost, as I said, provides a generational cure. Gene editing, ie, after birth with a child who is affected, we then take perhaps stem cells from their bone marrow, edit their genes, ie, the sickle cell anaemia genes, edit that to perhaps unaffected haemoglobin AA gene in the lab. So, we take the bone marrow in the lab, edit it.

We have to prepare that patient by giving chemotherapy to wipe away those affected stem cells and we put the edited stem cells back into the body to then produce haemoglobin A genes. To be able to be successful with that, we have to ensure that we give chemotherapy first. 

That requires a good counselling because when you wipe out the bone marrow, there's a risk of infection. So, in a small proportion, maybe 1 to 2% these days, there is a significant risk that we minimise, and hence it’s done in very few centres. Clearly, that process can be quite expensive and at the moment is not fully funded by the NHS.

What is available, perhaps a bit more in about 10, 20% of this time, is using a sibling donor called hematopoietic stem cell transplant, where you find a matched donor. So, you don't need to edit. You take wipe out the recipient’s bone marrow, those receiving the donor cells bone marrow, and then transfer unaffected matched donor marrow to that individual. That's a lot cheaper. That's more widely available, but it can only reach 10, 20% of patients living with sickle cell disease.

So, the gene editing can be more widely available, but so expensive.  At the moment, it's about £2 million. So, we really have to find a better way where we can provide a cure. But actually, these two, three approaches are providing significant hope for the future cure for sickle cell disease.

And I think it's so important in this country, and globally, for us to do more research to focus on a cure. After all, sickle cell is actually the first condition to be genetically identified, over 50 or 60 years ago. So, finding a cure for this condition becomes so important. 

Kesewaa : Definitely. And when it's the fastest growing blood condition in the UK, I definitely think that garners a bit more attention.

Some patients do feel like it doesn't really get spoken about much despite it being such a big genetic condition in the UK. And I think it is really interesting that we are seeing the growth of these kind of medical advances in sickle cell and hopefully, like you say, they're available more widely. 

Eugene : Precisely. Thank you.

Kesewaa : I'd love to ask you about hydroxyurea because I do know that a lot of patients take that, but when they're wanting to start a family, their doctors advise them to stop. Is there a reason why? 

Eugene :  That's very, very important.

So, hydroxyurea is actually one of the most, if not the only, most effective drug for treating sickle cell disease. And it's so important for our patients living with the condition because it reduces significantly the frequency of sickle cell crisis. So, being at university, being at work, it actually means that they can almost live a good quality of life and be able to move on. So it's so, so pertinent. 

Clearly, one key thing is that for most medications the trials are not done in pregnancy.

And that actually impacts on women's health in general. So if a woman or a couple wants to become pregnant and they are on hydroxyurea or hydroxycarbamide, we don't know the affect or the impact or the safety profile in pregnancy and the impact on the unborn child, we often have to advise for them to stop whilst they are planning pregnancy, and also if they become pregnant on it - to stop. 

Clearly, for some mothers where it may take time to become pregnant, you are saying for 6 months, 9 months, they stop this important medication, which really helps with their quality of life. But I think perhaps at the moment, whilst we don't know the affect on the safety profile of the baby it’s the right thing for us to do. 

We need to do more work. We need to collect more data. But the advice now is : to stop it. If they are on it and they become pregnant, to stop it. 

But to continue : as we get more data, it may be that you will advise stop for the first 12 weeks of pregnancy if a mother is severely unwell with frequent crisis or perhaps, we can use blood transfusion because they react badly to blood transfusion then we may be only left with hydroxyurea/hydroxycarbamide. But with multidisciplinary discussions and care and clearly ensuring that the mother/couple are well informed, they may choose that this is the only option for them.

And in that case, on those individual bases, we can consider it.

Kesewaa :  I think that's really interesting because that's obviously such a big thing for a mother to think about when she's carrying her child. And I think as well, when we look at statistics when it comes to black maternal death, maternal motherhood, we see that black women are 4 times more likely to die during childbirth. So, if I was a sickle cell patient and I already know this and I feel like my pain is ignored, maybe sometimes nurses aren't listening to patients, I can't take the one thing that makes me feel okay.

It must be so worrying for them at times. 

Eugene :  It is, and I think, in these situations, it's important to build the trust, because it's very very worrying for the patient. And that means that ensuring they have continuity of carer with their midwives. Very importantly, the sickle cell nurse who may have been involved in their care for a long time pre pregnancy, some from childhood onwards, some through the transitional care, becomes a linchpin. So, they will often have their mobile in pregnancy. They're able to ring them and discuss some of these challenging issues. And as doctors ensuring that we bring in the nurses, the midwives, the community nurse, the blood doctors, and be able to discuss this with the patient right at the centre to perhaps provide that personalised precise care for the couple, for the mother. And I think this becomes a very good experience. 

It's not provided everywhere. It's not provided all the time. But if we are able to build trust and actually ensure that they care 100% across board and awareness for the condition to all midwives in terms of training, I think we can make a huge difference. The system really has to change to address the 4 times more, and I think there is a lot of work that needs to be done within the NHS for us to move that forward. 

Kesewaa : Thank you for sharing that with me. When it comes to family planning and couples, I definitely think - throw sickle cell into the mix- and sex and relationships amongst the black community is very taboo. And I think it's even more taboo when, you know, sickle cell is present. And I'm just wondering, when it comes to the men, have you heard from them about difficulties maybe men with sickle cell have had when they're trying to plan with their partner? 

Eugene : It is very, very important because clearly in the wider society, within the health sector, within schools, social in general, sadly, there's a stigma attached to sickle cell disease. And how our patients navigate through this could be very, very challenging.

And I think it's important so much for us to improve awareness at the schools, community health in general, and also particularly access to the NHS becomes very, very important. And I think at a crucial stage in, a patient's life living with the condition is very, very important for us to ensure that that stigma is removed. 

Dating becomes very, very important - at what stage of the relationship do you let the partner know is very, very important. And I think us being conversant and also empathetic in those stages of life becomes very very important. If we are able to overcome that through relationships, clearly there are perhaps concerns with regards to intimacy, intercourse, and the impact particularly in, the males, often concerns such as priapism, and that is in relation to perhaps sustained erection for more than 30 minutes, and how that is dealt with.

And it's important perhaps, the good rapport with your sickle cell team it’s important to make the patient aware of this, before that stage, and also what to do, to alleviate those symptoms. So, for instance, when that were to happen, it's important to ensure that simple things like taking paracetamol, being able to drink water. Sometimes they need to maybe go for a run may make, a difference. But if it goes on for more than 2 hours, that may require the need to go to an emergency, to be cared for, and that will require perhaps the need for the blood doctors to be involved. Sometimes we do give medication to help, and, very, very occasionally may require surgical treatment by perhaps, who we call urologists, specialises in that scenario, but very rarely do we require surgery.

And often those self treatments make a difference, and are able to help. And often, if it's a long term partner, if they are aware, actually, they're extremely empathetic and, able to go through that aspect of life very, perhaps, not as challenging as it could be. 

Kesewaa : So, Eugene, it's been so fascinating talking to you, but I'd love to know how do treatments that sickle cell patients have affect libido, fertility and sexual function? 

Eugene :  So I think taking the libido and sexual function first, the key is ensuring that the patient has less crises, and hence, their quality of life is good.

Clearly, if the quality of life is good, there isn't much of an impact of sickle cell disease on the experience and lifestyle, then actually, libido and sexual function will be automatically fine. 1, they are not in hospitals a lot. 2, they are getting on with their daily living, and, hence, actually, their well-being is good. So libido and sexual function is very good. Certainly, the less crisis such as using medications such as hydroxycarbamide will mean that their frequency of crisis, including priapism, will be very less.

So, as a result, libido, sexual function will be just as any other person. So very, very important. The frequency of crisis may be controlled by blood transfusion or what we call exchange blood transfusion. And that means perhaps removing the sickle cell and replacing it with usual blood cells. And in that scenario, for some patients living with the condition, that is actually what is best for them, and they carry on normally.

We have patients who may live abroad, but every 6 weeks come for their treatment, carry on with their normal life, and that includes normal sexual function, normal libido. Clearly, enhanced hydroxycarbamide, exchange blood transfusion, very, very pertinent and actually makes a huge difference to some patients who may have been on these for years, and they live a very good quality of life. 

With regards to fertility, that is an important one. So, hydroxycarbamide, we really don't know the impact on fertility. It will be very, very mild because there are a lot of patients who maybe on it where we measure a hormone, called Anti-Müllerian hormone (AMH), which, is a measure of ovarian function or testicular function. And we are finding that the AMH may be low. This may be as a result of the condition, or it may be as a result of the hydroxycarbamide. We really don't know. So, I think when it comes to a time where a patient or a person living with the condition is planning pregnancy, we often do advise to stop hydroxycarbamide. And we say that continue to cease on it during pregnancy as well.

We have published for the first time, actually, a measure of this hormone for, patients living with the condition. And what we are advising is that whilst perhaps 20, 30 years ago, I may see only 5% of mothers over 40 having pregnancy. Now I'm seeing 20% even in the general population. We will advise that for patients living with sickle cell disease, particularly women, don't leave your reproductive life till late  - or fertility, planning pregnancy till too late because the ovarian function may go down as a result of the condition. But the treatment such as hydroxycarbamide may even compound on that further.

So don't leave pregnancy till too late. Secondly, for exchange blood transfusion, actually, it has no impact on fertility at all. 

Kesewaa : That's probably really reassuring for some sickle cell patients. So I'd love to ask how soon after giving birth can women go back on hydroxyurea?

Eugene : Not very long because there's very minimal impact or virtually no impact on breastfeeding. So going back on it, usually, we advise they go back to see the, sickle team certainly in the UK, 6 weeks also. And often, they would advise them to go back on it after that. They can use hydroxyurea/hydroxycarbamide with breastfeeding. There's no issue there. 

Kesewaa : That's good to know. I mean, I feel like after they've pushed out the baby, it's probably a relief to know that they'll be able to go back on their pain relief shortly after. Now, Eugene, people have written in with their dilemmas, with their questions. So, I'd love to discuss them with you. Can we do that? Is that okay? 

Eugene : For sure. For sure.

Kesewaa : This question is for someone who's 45, and they've written on behalf of their daughter who has sickled cells. Now, she's currently on hydroxyurea, but she wants to start a family. What can she do? I think we've, you know, discussed that, haven't we? 

Eugene : That's true. That's very, very important. And it is good to ask this question at this stage because interestingly, hydroxyurea is the most effective drug, perhaps the only drug that we've really got for treating sickle cell disease. So, answering this question impacts on a lot of patients living with the condition. Our current advice is that if they are planning pregnancy to stop hydroxyurea, but it's important for her to discuss with her team of doctors who usually will see her at least every year.

And stopping it may actually increase her frequency of getting crisis. So, there is then a plan in place whether they switch to, exchange transfusion during that period. And by and large, if she's trying for within a year, there's 80% chance that they will become pregnant. So hopefully, they wouldn't have stopped it for long. When they become pregnant, they should continue not to be on it because the reason for stopping is that the studies not done in humans, but in animal studies, there may be a suggestion that it may impact on the developing organs of that baby, that foetus.

So, it for caution, they stop it. If in pregnancy, we have concern, we can think of exchange or blood transfusion. So, we have a different method to look after them in pregnancy. And then after delivery to them go back on it. But this has to be discussed with her team.

And depending on what is best for the daughter, they will have a good plan clearly with the daughter being right at the centre of the decision making. 

Kesewaa : And that's a very comprehensive answer. So, thank you, Professor Eugene. Someone's written in, age 30, how to reduce the painful and stress part when it comes to planning a baby. 

Eugene : The key thing is the planning.

Often, usually, again, her team of nurses, doctors should be able to help navigate, the challenges, the stresses of planning pregnancy and becoming pregnant. I think that it's important to say that almost all patients living with the condition will be able to have a safe pregnancy. There are only very small scenarios, particularly those with pulmonary hypertension, ie where the condition has affected their heart so much.

And this is why in most of the cases, particularly the women, we do echocardiography to screen that the heart is fine. By and large, where that is fine, anyone should be able to become pregnant. And we plan that pregnancy as to what to do in different scenarios. Have a multidisciplinary team that involves obstetricians, midwives, nurses, specialist blood doctors, and be able to see them regularly. Also ensuring that there is a good, rapport with that team, particularly - able to contact the nurses very regularly.

And then with that regular review, with growth scans, monitoring the baby as well, most, patients living with the condition will be able to have a successful pregnancy, a successful outcome, and a good experience. 

Kesewaa :That's really reassuring to hear. Well, thank you so much, Professor Eugene.

Someone aged 31 has written in, what affect will pregnancy have on my avascular necrosis in my hip? They're worried that they will not be able to carry a baby due to the weight and pressure it places on their hip. Any advice? Any tips? 

Eugene : So perhaps I'll follow on with the last question. I think one important thing is for our patients living with the condition to be able to find out centres that really are dedicated to looking after them in pregnancy. And most centres in the UK can do that. They are linked often, even if it's a remote hospital linked with specialist centres. So, they should ask that question ; ‘Would you ensure that I'm linked with a specialist centre that looks after sickle cell disease?’  That's very, very important. For specifically answering that question in terms of avascular necrosis and sometimes hip replacement. Carrying the baby will be fine. It shouldn't be a problem.

So, we will be able to look after her without much concern. They may have crisis anywhere in their body. They may have crisis in the femur in the legs. And again, that will be looked after. Where there is a slight challenge is perhaps position to deliver the baby and in some scenarios where it may be challenging to part the legs for the delivery, we will assess so that we don't compromise that hip.

And occasionally, it may require caesarean section or perhaps different positions where the unaffected leg is fine - a lie on that side and parting the legs, till, again - she’ll be able to say ‘not that far’. We’ll assess that and ensure a normal delivery, but in some scenarios where it would be challenging we would deliver by caesarean section.

But carrying the actual baby throughout the 9 months of the pregnancy is by and large very safe. 

Kesewaa : Okay. Thank you. And I guess so it's very safe, for the baby to be carried for over those 9 months.

Eugene : That's right. 

Kesewaa : And also, the medical team will find something that works for her when it comes to delivery.

Eugene : That's actually so important, that personalised care is so crucial.

Kesewaa : That's really useful to know. Thank you so much, Eugene. And someone has asked a question about intimacy.

Now they've asked, can sickle cell cause pain during sexual intercourse? 

Eugene : It shouldn't do. Clearly, we have to ensure we've provided good advice to alleviate any anxiety, for that person. It shouldn't really do because, that activity, if anything, it may minimize your stress. So, it shouldn't really do.

I think that a good education, a good awareness to alleviate any anxiety is fine. Generally, with intimacy, actually getting to know yourself as a couple makes a huge difference. So appropriately ensuring that the partner perhaps know a bit more and you're able to naturally relax in that environment may alleviate any concerns, anxieties. But the actual condition should not impact in terms of crisis at the time of, intimacy. 

Kesewaa : Do you think if that does happen or if it happens more than once, should that person go see their GP or specialist?

Eugene : I think, it will be helpful because actually being able to talk through this and being able to be reassured that, the condition may not be an issue in it, may in itself be enough to actually calm that person because living with the condition, there are a lot of taboos, and I think sometimes seeing a professional about it is so important because what family members may say or the stigma one may have experienced, may actually impact on that. So, seeking a professional in time such as a GP, such as the sickle nurse specialist, will make a huge difference, but it shouldn't impact on intimacy at all. 

Kesewaa : Okay. Thank you very much.

You've been listening to the Sickle Cell Society Podcast. Today, we were joined by Professor Eugene. We're sponsored by Terumo and stay tuned for next time.