September is Sickle Cell Awareness Month. Sickle Cell Disorder primarily affects Black people and is one of a very small number of diseases that is highly prevalent in only one ethnic group, but awareness of the illness is still low. In the last year, huge advances have been made in the search for a cure. In this post we’re taking a closer look at what sickle cell is, recent advances in treatment and what you can do to help this Sickle Cell Awareness Month.
What is Sickle Cell Disorder?
Sickle Cell Disorder (SCD) is a genetic red blood cell disorder that affects haemoglobin. Haemoglobin is the protein in red blood cells that is responsible for carrying oxygen throughout the body. People with SCD produce an atypical form of haemoglobin (known as Haemoglobin S or HbS) which leads to rigid sickle-shaped red blood cells (healthy red blood cells are round) (1). These sickle-shaped cells don’t ‘live’ as long as healthy red blood cells, and they can also stick together causing blocked blood vessels which can lead to a range of complications including blindness, strokes, infections and organ and bone damage (1,2). These complications can also be fatal. In Black women, SCD and its associated treatments can also decrease fertility (3).
The main symptoms of the disorder are anaemia and episodes of severe pain. People with SCD experience pain when red blood cells change shape after releasing oxygen. These episodes of pain are also known as a sickle cell crisis. Current treatments for SCD focus on pain reduction and the prevention and treatment of complications, as opposed to SCD itself.
SCD is not contagious and everyone living with the disorder is born with it. SCD is a recessive disorder, meaning that there is a 1 in 4 chance of you inheriting SCD if both parents carry the sickle cell trait. According to the Sickle Cell Society, around 1 in 79 babies born in the UK carry the sickle cell trait and around 17,500 people currently live with SCD. SCD is not only prevalent in the UK but also affects over 300,000 newborns globally each year (4). In the UK, 99% of children with SCD survive to adulthood, however, in other parts of the world, the long-term outcomes of children born with SCD can be much poorer. In sub-Saharan Africa, for example, the estimated mortality rate of children with SCD under the age of 5 is between 50 and 90% (5). SCD can affect anyone, but as we mentioned before, it most commonly affects people from African and Caribbean backgrounds.
The outcomes of SCD are dependent on many different factors. Regardless, it is good to know that there are continued advancements in the search for improved treatments and a more accessible cure for SCD.
New advances in treatments and the search for a cure
Although SCD was discovered in 1910, the pathogenesis of the disorder was not determined until 2004, almost a full 100 years later and progress in the search for effective treatments and a more viable cure has been slow.
Current treatments for SCD currently include regular blood transfusions to treat anaemia and taking hydroxycarbamide (also known as hydrourea) to help reduce pain during a crisis. The only cure for SCD is a stem cell or bone marrow transplant, where haemopoietic stem cells (cells that can turn into healthy blood cells) are given to people with SCD to produce healthy red blood cells to replace the sickle cells. Unfortunately, this cure is not available to everyone and comes with huge risks. The main risk is ‘graft vs host disease’ - this is where the transplanted cells start to attack other cells in the body of the person who received the transplant. This can be fatal. Stem cells for the transplant can only be taken from someone with the same or similar tissue types, this is ideally a close family member, and transplants are usually only used as a last resort if all other treatments have not helped.
In the last few years, advances in research have led to some promising breakthroughs. Some studies suggest that gene editing can help to cure SCD without the need for transplants from healthy donors (6). This YouTube video explains more about the process. Casgevy, a new gene editing treatment, was trialled in the US in 2022 and successfully cured 7 people of SCD. Last year, Casgevny was approved for use in the UK. This treatment could be life-changing for so many people as it would mean that the risks and restrictions associated with stem cell transplantation would be greatly reduced, making it a much more accessible treatment for a lot more people.
Another research breakthrough led to the development of a new treatment option for people living with SCD. Earlier this year, the NHS also started using a new drug called Voxelotor to treat sickle cell anaemia in people over 12 years old. Voxelotor is a tablet that is taken daily. Active ingredients in Voxelotor bind to HbS, preventing it from polymerising and forming sickle-shaped red blood cells. This treatment can reduce the number and frequency of sickle cell crises that a person experiences, which can help them live more comfortable lives.
Despite the lack of widespread awareness of SCD, scientists are working on ways to treat and cure SCD and ensure that viable treatments are accessible. There is still a long way to go until those with SCD can live more comfortably and without fear of crises, but there is hope.
What can we do in the meantime?
The short answer is: raise awareness and donate blood! The Sickle Cell Society run a blood donation project called Give Blood, Spread Love, England which aims to increase the number of Black blood donors. Donating blood is free and most people are eligible to do it. You can find out more about becoming a blood donor on the NHS website. If you are willing and able you can also donate your bone marrow. Donating bone marrow is a longer process than donating blood, which takes around an hour, but it could help to completely cure someone of SCD.
The Sickle Cell Society also run a fundraising campaign that you can join to help raise money for research and to support people living with SCD to live more comfortably.
Raising awareness for sickle cell can look like supporting and listening to people living with sickle cell and educating yourself on what to do to help someone experiencing a sickle cell crisis. Many people living with SCD know how to manage their conditions but it can be helpful to have someone who knows how to help them or can be there to advocate for them.
You can also help to raise awareness of SCD by engaging with media that features SCD. One great example is Supacell, a show that was released on Netflix earlier this year. Supacell linked sickle cell with superpowers which helped to both bring awareness to the disorder and destigmatise it. As an added bonus, Supacell has a majority Black cast and has been renewed for season 2! As a big advocate for supporting Black film and TV shows which are often underfunded and underappreciated, I’d recommend giving Supacell a watch.
As well as raising awareness and giving blood, having information about your own Sickle Cell status is massively important. Fortunately, testing for sickle cell is as easy as getting a blood test. You can learn more about getting a sickle cell test on the NHS website.
In conclusion, sickle cell disorder is a lifelong condition that primarily affects Black people all over the world. Recent advances in research have led to the development of promising treatments, and even a new potential cure. Educating ourselves on sickle cell and how to support someone experiencing a sickle cell crisis as well as donating blood can be a good way to help people living with sickle cell live more comfortably.
By Esther Ansah, Blog Writer
References
1. Bhalla N, Bhargav A, Yadav SK, Singh AK. Allogeneic hematopoietic stem cell transplantation to cure sickle cell disease: A review. Front Med (Lausanne). 2023 Feb 23;10:1036939.
2. Austin H, Lally C, Benson JM, Whitsett C, Hooper WC, Key NS. Hormonal contraception, sickle cell trait, and risk for venous thromboembolism among African American women. Am J Obstet Gynecol. 2009 Jun 1;200(6):620.e1-620.e3.
3. Shandley LM, Fasano RM, Spencer JB, Mertens AC, McPherson LJ, Dixon MA, et al. The impact of sickle cell disease and its treatment on ovarian reserve in reproductive-aged Black women. Br J Haematol. 2024 Aug 1;205(2):674–85.
4. Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Dewi M, et al. Global epidemiology of Sickle haemoglobin in neonates: A contemporary geostatistical model-based map and population estimates. The Lancet. 2013 Jan 12;381(9861):142–51.
5. McGann PT, Hernandez AG, Ware RE. Sickle cell anemia in sub-Saharan Africa: advancing the clinical paradigm through partnerships and research. Blood. 2017 Jan 12;129(2):155–61.
6. Eckrich MJ, Frangoul H. Gene editing for sickle cell disease and transfusion dependent thalassemias- A cure within reach. Semin Hematol. 2023 Jan 1;60(1):3–9.
Brilliant and informative article. Thanks!