Features

Sickle cell disease: behind the curve

21 May 2021

Sickle cell disease is one of the most common genetic disorders in the UK. Journalist Linsey Wynton sets out the essential information about this serious, rarely cured and often painful condition.

The recent inquest into the death of 21-year-old sickle cell disease (SCD) patient Evan Nathan Smith heard that he called 999 from his hospital bed after nurses had failed to give him oxygen (de la Mare, 2021). The case has highlighted the need for comprehensive training for all medical professionals in SCD, which is a group of inherited blood disorders that can lead to a wide range of health problems.

The most common symptoms are anaemia; prolonged episodes of severe pain, known as sickle cell crises; and impaired resistance to infection. But they can also include pulmonary hypertension, strokes and a serious lung condition called acute chest syndrome.

About 15,000 people have SCD in the UK, where 270 babies are born with the genetic defect each year (Sickle Cell Society (SCS), 2021a). The most common type of SCD is sickle cell anaemia, which typically develops in infancy. It causes red blood cells to change from their normal doughnut shape by altering the structure of the oxygen-carrying haemoglobin proteins within them (OSCAR Sandwell, 2021). The stiff, distorted cells that give the condition its name tend to break down more quickly, while their curved shape makes them more likely to stick together and block small blood vessels, further impairing the circulation of oxygen (SCS, 2021a).

The disease can be inherited either if both parents carry a gene called the sickle cell trait, or if one is a carrier and the other has the disease (see panel, Living with the sickle cell trait). The condition predominantly affects people of African and Caribbean heritage and some people of South American, Mediterranean and Middle Eastern descent (American Society of Hematology, 2021).

SCD campaigners hope that World Sickle Cell Day on 19 June (Sickle Cell Disease Association of America, 2021) will raise awareness of the condition among health professionals and the wider public, and ensure that SCD patients receive the understanding and treatment they deserve.

John James OBE, chief executive of the SCS, recommends that all community practitioners obtain training on the subject if they haven’t already done so.

‘Sickle cell is this country’s biggest genetic blood disorder, but people don’t know as much about it as they do about cystic fibrosis, for example,’ he says. ‘I believe that race and discrimination play a part in why it’s an underserved condition. It has not had investment and development for decades, even though it’s been known about for over 100 years.’

‘Sickle cell is this country’s biggest genetic blood disorder, but people don’t know as much about it as they do about cystic fibrosis’

Early warning system

The sickle cell trait is detectable by a blood test given to all pregnant women and newborn babies, regardless of their ethnicity (SCS, 2021a). Public Health England started a national programme of newborn SCD screening in 2006. ‘This has been a major development,’ says Professor Dame Elizabeth Anionwu, who in the late 1970s became the first nurse specialist in SCD and thalassaemia (another group of inherited haemoglobin disorders) in the UK. ‘It means that all heath visitors will be aware of the importance of early recognition, while families will be in a better position to cope with the condition and improve a child’s quality of life.’

Recommending that all community practitioners use the SCS website as both a professional resource and a signpost for families, she adds: ‘There has been confusion between sickle cell trait – a gene – and the illness. This highlights how important it is that every CP course should include training on sickle cell.’


Case study: ‘the pain is real’

Ali Gaspar, a London grime musician better known by his stage name ‘A Star’, recently released a rap video called ‘Hidden Pain’. It featured a candid account of his own battles with SCD and an appeal for blood donors (NHS Give Blood, 2019).

His mother also has SCD and his father carries the sickle cell trait. Ali explains that, when he was born in 1988, they found out that he had SCD and only then learnt about each other’s health. He says: ‘This caused their separation – and I had a tough experience in a single-parent household. There were times when mum and I were both hospital patients. I have a vivid memory of leaving my bed with my drip, aged nine, and visiting her on another ward.’

Invisible hurt

‘I spent numerous times in hospital, which affected my education. I didn’t do as well as I should have done with my GCSEs and I didn’t get to finish my degree.’

At 25, Ali had a hip replaced as a result of osteonecrosis. He now has a specialist GP and medical team, he says. ‘I caught Covid last year, which gave me a lung clot. If it weren’t for my doctors’ realisation that they needed to attend rapidly, that would have been it for me.’  

When Ali and his wife decided to try for a baby, his GP advised he stop taking hydroxyurea, ‘as it can affect the reproductive system’. He says: ‘After I came off it, I had back-to-back crises for six months. My wife was forced to become my carer at the age of 27.’

Fighting ignorance

On his doctor’s advice, Ali now has a transfusion every six weeks and hasn’t had a crisis since. ‘I made “Hidden Pain” to push the message for black people to give blood,’ he says. ‘Only 1% of black people in the UK are donors.’

Ali was made redundant from his job as a youth worker last year, just after the birth of his daughter. He now wants to work as an advocate for people with SCD, as he believes there remains ‘a lot of ignorance among doctors and nurses’. He explains: ‘You go to hospital and they will always ask: “Why do we need to give you morphine? Are you sure you’re in that much pain?”

‘The NHS needs to get someone with sickle cell to deliver sessions on what we go through and explain that we’re not timewasters or drug addicts – that’s not why we ask for morphine,’ says Ali, who recommends that health professionals always listen to children with SCD. ‘Someone with it would not exaggerate. People say you can’t hurt that much, but we do.’


Health risks and mitigation measures

‘This condition affects every part of your life,’ John says. ‘And it can bring about earlier mortality than the rest of the population.’

SCD can strike people in a wide range of ways, with varying levels of severity. Those who have it are at increased risk of acute chest syndrome, bone disintegration, kidney damage, leg ulcers, gallstones, high blood pressure, osteonecrosis, heart problems and blindness. Children are particularly vulnerable to strokes, although transcranial Doppler ultrasound screening from age two has reduced the risk of death.

In addition, male SCD patients may experience priapism – persistent and painful erections (SCS, 2021a). ‘Boys don’t talk about this because of embarrassment, but it can require hospitalisation if not treated early,’ says John, adding that boys should be made aware of this and encouraged to talk about any symptoms to a trusted adult.

A sickle cell crisis can last for up to a week, commonly causing severe pain in a particular part of the body, such as the chest, spine, belly, hips, limbs and (particularly in children) the hands or feet. If it becomes unbearable, a patient will need hospital treatment, including morphine or Entonox (Imperial College Healthcare, 2019).

‘We know there are health professionals who don’t believe people who come to them in pain,’ John says. ‘That still happens if you turn up at hospital saying that you have SCD and are experiencing pain, yet you aren’t bruised. It’s an invisible condition.’

A number of self-management strategies are recommended for reducing the risk of a crisis. These include keeping well hydrated; avoiding extremes of temperature, when swimming for example; staying free of bugs that can affect the immune system; and abstaining from alcohol consumption and smoking.

‘The most common factor in crises is dehydration, yet we have had issues with schools about children not drinking enough water,’ says John, who had to give the government ‘a nudge’ after it had initially omitted SCD patients from the list of extremely clinically vulnerable people required to shield from Covid-19.

He adds that stress and anxiety can also bring on a crisis. Almost three-quarters of people with SCD and their carers reported that the social isolation caused by shielding had harmed their mental health. Half said that they hadn’t had access to the same healthcare services they had been able to use before the pandemic, while a fifth said that this had caused a crisis (SCS, 2021b).

John would like to see the wider provision of counselling, psychological support and peer mentoring for those living with the disease (SCS, 2021c). ‘For children with SCD, there is a “why me?” attitude when they can’t go swimming, for instance, unlike their siblings who don’t have it,’ he says.

 

Key treatments

SCD usually requires lifelong treatment, of which there are three main types: medication, blood exchanges, and transplants of bone marrow or stem cells.

Medication

Penicillin or erythromycin is prescribed to all infants from three months to prevent pneumococcal sepsis. Infants receive extra vaccinations against meningitis and pneumococcus.

Hydroxyurea, also known as hydroxycarbamide, is often prescribed to children from age two to increase their blood haemoglobin levels and reduce painful episodes (SCS, 2021a).

‘Hydroxyurea is the only treatment licensed for SCD. That has been the case for 30 years,’ John says. ‘This speaks volumes when you consider the number of drugs available for other chronic conditions. Hydroxyurea was never invented for sickle cell – it’s a chemotherapy drug. Even though it’s proven to make a difference, many people are wary of it because there are some toxic side effects. Because of these, it can’t be taken by anyone wishing to start a family.’

‘There has been confusion between sickle cell trait – a gene – and the illness. This highlights how important it is that every CP course includes training on sickle cell’

Blood exchanges

A regular blood exchange – where some blood is removed and healthy blood is given by transfusion – can help patients with severe SCD symptoms. Emergency transfusions will also be performed in cases such as a stroke or crisis (Guy’s and St Thomas’ NHS Foundation Trust, 2018).

Unfortunately, there is a shortage of suitable donors (NHS Blood and Transplant, 2021a). Certain blood groups, such as O RhD positive and B RhD positive, are more prevalent among BAME communities, while some rare blood types are found only within BAME communities (NHS Blood and Transplant, 2021b).

Bone marrow/stem cell transplants

These are the only cure for SCD, requiring a donor such as a sibling with compatible bone marrow (Guy’s and St Thomas’ NHS Foundation Trust, 2020). John says: ‘While transplantation is improving, the complications can be very serious. Children are eligible for free bone marrow transplants through the NHS, which has now agreed a policy for adult transplants.’

 

‘When I look back to the 1970s, even though I don’t excuse it, sickle cell was a newer feature in the UK. But today there’s no excuse’ - Professor Dame Elizabeth Anionwu, Honorary vice-president, Unite-CPHVA

 

 

Painfully slow progress

Dame Elizabeth was offered no training in the disease throughout the time she worked as an HV. She had to go to the US to educate herself in SCD before setting up the UK’s first sickle cell and thalassaemia screening and counselling centre in Willesden, north-west London, in 1979 (Mistlin, 2020).

She is pleased that there is now a network of haemoglobinopathy coordinating centres in cities including Bristol, London, Manchester, Oxford and Sheffield (SCS, 2021b). But the SCS is still campaigning for exemption from prescription charges for medicines that SCD patients depend on (SCS, 2017), despite numerous representations to policy-makers, most recently a petition this year (UK Government and Parliament, 2021).

Dame Elizabeth believes that fundamental changes in approach to the treatment of SCD – both medical and political – remain overdue. ‘Sickle cell is still not properly on the agenda,’ she argues. ‘When I look back to the 1970s, even though I don’t excuse it, sickle cell was a newer feature in the UK. But today there’s no excuse.’

John is hopeful that the latest research into gene therapy for SCD patients will achieve a breakthrough (Thompson, 2020). ‘There are currently at least two new disease-modifying drugs being considered by NICE,’ he reports. ‘These will be more expensive than hydroxyurea when they come out, but that should not be an excuse to say “no” to them. I hope the future will be brighter for younger people with sickle cell.’ 


Resources  


References:

American Society of Hematology. (2021) Sickle cell disease. See: hematology.org/education/patients/anemia/sickle-cell-disease (accessed 22 April 2021).

de la Mare T. (2021) Patient rang 999 from hospital bed after being refused oxygen,  inquest hears. London Evening Standard. See: standard.co.uk/news/uk/north-middlesex-hospital-london-ambulance-service-london-caribbean-african-b927555.html (accessed 3 April 2021).

Guy’s & St Thomas’s NHS Foundation Trust. (2020). Bone marrow (stem cell) transplant: for children and young people with sickle cell disease. See: evelinalondon.nhs.uk/resources/patient-information/BMT-for-sickle-cell-disease-web-friendly.pdf

Guy’s & St Thomas’s NHS Foundation Trust. (2018). Having an exchange blood transfusion. See: https://www.guysandstthomas.nhs.uk/resources/patient-information/haematology/exchange-blood-transfusion-scd.pdf (accessed 29 March 2021).

Mistlin A. (2020). Black lives: Elizabeth Anionowu: ‘the cool, black, exceptional woman’ who fought to make the NHS fairer. The Guardian. See: https://www.theguardian.com/society/2020/dec/10/elizabeth-anionwu-the-cool-black-and-exceptional-nurse-who-fought-to-make-the-nhs-fairer (accessed 21 March 2021).

NHS Blood and Transplant. (2021a) Funding boost to promote blood and organ donation amongst Black and Asian communities. See: https://www.blood.co.uk/news-and-campaigns/news-and-statements/funding-boost-to-promote-blood-and-organ-donation-amongst-black-and-asian-communities/ (accessed 19 March 2021).

NHS Blood and Transplant. (2021b) Black, Asian and Minority Ethnic Communities. See: https://www.blood.co.uk/why-give-blood/demand-for-different-blood-types/black-asian-and-minority-ethnic-communities/ (accessed 29 March 2021).

NHS Blood and Transplant. (2021c) NHS and Tropical Sun aim to start family ‘heart to heart’ about blood and organ donation. See: https://www.organdonation.nhs.uk/get-involved/news/nhs-and-tropical-sun-aim-to-start-family-heart-to-heart-about-blood-and-organ-donation/ (accessed 3 April 2021).

NHS Give Blood. (2019) Youtube, A Star – Hidden Pain Ft. Leke. See: https://youtu.be/gPaX0kXj_jQ (accessed 19 March 2021).

NHS. (2021a) Symptoms: sickle cell disease. See: https://www.nhs.uk/conditions/sickle-cell-disease/symptoms/ (accessed 31 March 2021).

NHS. (2021b) Overview: sickle cell disease. See: https://www.nhs.uk/conditions/sickle-cell-disease/ (accessed 21 March 2021).

NHS. (2021c) Newborn blood spot test. See: https://www.nhs.uk/conditions/baby/newborn-screening/blood-spot-test/ (accessed 2 April 2021).

OSCAR Sandwell. (2021) Sickle cell disorder. See: https://www.oscarsandwell.org.uk/?page_id=225 (accessed 31 March 2021).

UK Government and Parliament. (2021) Include sickle cell anemia in the list of illnesses eligible for a MedEx card. See: https://petition.parliament.uk/petitions/333926 (accessed 21 March 2021).

Sickle Cell Disease Association of America. (2021) World Sickle Cell Day. See: https://www.sicklecelldisease.org/get-involved/events/awareness-month-and-world-sickle-day/ (accessed 3 April 2021).

Sickle Cell Society. (2021a) About sickle cell. See: https://www.sicklecellsociety.org/about-sickle-cell/ (accessed 18 March 2021).

Sickle Cell Society. (2021b) Haemoglobinopathies coordinating centres. See: https://www.sicklecellsociety.org/hccs/ (accessed 28 March 2021).

Sickle Cell Society. (2021c) Cast aside and forgotten. See: https://www.sicklecellsociety.org/cast-aside-and-forgotten/ (accessed 22 March 2021).

Sickle Cell Society. (2017) Prescription charges set to rise again. See: https://www.sicklecellsociety.org/prescription-charges-set-rise/ (accessed 21 March 2021). 

Image credit | Science Photo Library | PA Images

 

 

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