Professor Jo Howard
Consultant Haematologist, Guy’s and St Thomas’, London
Sickle cell disease is a painful, unpredictable condition that severely impacts on health and quality of life – but advances in treatments and care delivery are providing new hope.
Recent advances could transform the management of sickle cell disease (SCD), an inherited blood disorder with a high toll on physical and psychological health.
SCD, which affects between 12,000 and 15,000 people in the UK[1], primarily from black communities, leads to anaemia and recurrent, debilitating pain, that leaves patients hospitalised.
People living with the condition have faced a lack of effective treatments and stigmatisation, but a shift in the way the condition is treated and managed could change all that, says Professor Jo Howard, consultant haematologist at Guy’s and St Thomas’ in London.
Many people are treated with regular blood transfusions, particularly the 10 to 15% of children deemed to be high-risk of having a stroke, she said.
High physical and emotional burden
Professor Howard explains: “People experience unexpected, unpredictable, severe pain and need to come into hospital for very strong painkillers.
“It can happen out of blue, or it can be precipitated by things like cold weather, stress, exertion, and infection.
“It’s incredibly stressful to know your plans could be disrupted by pain at any point. It’s hard for children to think if they go and play a game of football or build a snowman, for example, they might then experience severe pain.”
SCD, Professor Howard explains, has a huge psychological impact on patients. They live with the fear of chronic complications, including an increased risk of strokes, infection, kidney failure, and heart, lung and eye problems.
Available treatments focus on managing the pain
Currently, there are few treatments for SCD, meaning healthcare teams focus on managing pain and preventing complications.
“We give penicillin to all children to stop infections and folic acid to help them build their blood.
“There is only one licensed treatment[2], hydroxycarbamide, which is very effective, but it has side effects and isn’t suitable for everyone,” explains Professor Howard.
Bone marrow transplantation is the only currently available cure, though side effects are common, and it works best when the donor is a matched sibling – something only possible in around 20% of cases[3].
It’s hard for children to think if they go and play a game of football or build a snowman, for example, they might then experience severe pain.
Many people are treated with regular blood transfusions, particularly the 10 to 15% of children deemed to be high-risk of having a stroke, she said.
“That means coming to the hospital every three to eight weeks. It’s not the easiest treatment to have for your whole life,” said Professor Howard, explaining that school and work is missed to attend appointments.
But new treatments are currently being trialled, making it an “exciting time”.
Ensuring there is no postcode lottery; nor stigma
In October, the NHS restructured its sickle cell services, enabling the country’s smaller hospitals to easily tap into the knowledge and expertise at specialised centres.
As well as ensuring that everyone with SCD receives the best care, no matter where in the country they live, Dr Howard also hopes this new approach will help fight false perceptions.
“Historically, people with SCD have felt stigmatised by the medical profession when they come in with pain crisis, especially in places that don’t see a lot of sickle cell.
“That is changing because we are raising awareness, whether that’s through continued education or the patient societies.”
12-week isolation during COVID-19 for people with SCD
COVID-19 is also changing services for people with SCD, who have been deemed as “extremely clinically vulnerable” and asked to shield for 12 weeks.
Despite initial fears, data collected by sickle cell teams are encouraging for children, showing a similar risk profile to that of the general population. Concerns remain around increased vulnerability in some adults with SCD.
To help people visit hospital as little as possible, telephone and video consultations have become the norm, and psychologists are offering virtual support group sessions.
“A lot of patients really like the way we are doing things now. Virtual consultations are something we have been trying to do for some time, but this has really given us the impetus to do it.
“I imagine that we will continue to do some of our consultations virtually and I think that will be really beneficial for patient care,” said Professor Howard.
Learn more from Novartis here.
ONC20-C080b; June 2020
References: [1] Dormandy, E et al. J Public Health (Oxf). 2018 Sep 1;40(3):e291-e295. | [2] Hydroxycarbamide SmPC, available at https://www.medicines.org.uk/emc/product/10350/smpc (last accessed June 2020). | [3] Gluckman, E et al. Blood. 2017 Mar 16;129(11):1548-1556.
