What is sickle cell disease?

Sickle cell disease (SCD) is an inherited blood disorder. It is important to note that it is an umbrella term for the different types of sickle cell disorders. The most serious type is called sickle cell anaemia. The protein haemoglobin carries oxygen in your blood and around your body. In SCD, the haemoglobin forms abnormally, affecting the shape of red blood cells. People with SCD produce sickle-shaped red blood cells (hence the name) instead of the usual biconcave shape, causing red blood cells to become rigid and clump together. This causes blood vessels to become blocked and prompts a sickle cell crisis. This episode is painful and severe and can last several days or even weeks. The frequency of these crises varies from person to person. For some, it can occur weekly, and for others, it can occur yearly. Sickle-shaped cells don’t last as long as normal red blood cells, causing a red blood cell count below the healthy amount, leading to anaemia. Symptoms of anaemia include shortness of breath, headaches, fatigue, and an arrhythmic heartbeat. SCD is a lifelong health condition.

How does SCD affect the African Caribbean community?

In England, around 17,000 people are living with sickle cell disease, but it is particularly common in people with an African or Caribbean ethnic background. 90% of British SCD patients are of African heritage. In 2017, a study on Perceived Racial Bias and Health-Related Stigma Among Youth with Sickle Cell Disease found that occurrences of racial bias were endorsed, indicating that health-related stigma worsens the pain for patients and relates to a lower quality of life. Almost two-thirds of black people have said that they have experienced prejudice from healthcare staff. This increased to 75% among black people aged 18 to 34. Health-related stigma can manifest in different ways such as practitioners offering shorter appointments, offering less education about a person's health condition, or successive refusal of a patient's requests. The result of health-related stigma and racial bias means many SCD patients, African and Caribbean in particular, avoid going to the hospital until their pain is at its most extreme. This delay of treatment could lead to more severe damage to the body, damage that the patient is blamed for instead of the unequal healthcare system, putting a burden on the African Caribbean community for their higher numbers of people with sickle cell disease.

Treatments and cures

Sickle cell disease treatment includes medications, blood transfusions, bone marrow transplants, and gene therapy. A recently approved drug called Voxelotor can be offered as an additional treatment option. By taking this tablet once a day, patients could reduce their need for blood transfusions, leading to less frequent hospital visits. This is especially important for people who have had a history of reactions to blood transfusions.

During a blood transfusion, sickled red blood cells are replaced with healthy red blood cells. Blood transfusions are necessary when patients have complicated sickle cell crises and when there is a sudden drop in haemoglobin to reduce the symptoms of severe anaemia. Blood transfusions come from donated blood, carefully tested for infections and then closely matched to the patient.

Bone marrow transplants, also called stem cell transplants, require a strong match like a patient's family member. Stem cells from a healthy donor are administered through a drip into a vein so that the cells can produce healthy red blood cells to replace the sickled red blood cells. Since 1984, 1200 hematopoietic (blood) stem cell transplant cases have been reported. Even though bone marrow transplants are the only cure for SCD, they are not performed often due to the high risks involved. Before the transplant even begins, patients undergo chemotherapy to weaken and destroy their own bone marrow cells. This is done to ensure the patient doesn’t reject the new stem cells from the donor. However, this puts the patient at high risk of infection as there are fewer white blood cells to fight infection. After the transplant, patients are still at risk of Graft-versus-host-disease (GVHD). This severe disease occurs when the donor’s immune cells sense that the patient's cells are different and attack them. GVHD occurs in around one in 10 patients who have transplants from related donors, meaning there is a higher chance of the risk with transplants from other donors.

Gene therapy involves correcting an abnormal haemoglobin gene by replacing it with a healthy haemoglobin gene. This doesn’t alter genes in the ovum or sperm, so a patient’s offspring can still inherit SCD. Medicines and Healthcare Products Regulatory Agency has approved Casgevy- the first gene therapy medicine to be licensed for Sickle cell disease. In the clinical trial for sickle-cell disease, 97% of the eligible patients did not have severe pain crises for at least 12 months after the treatment. Thus, there is hope that one day, as research progresses, this will be a standard. However, economic factors do come into play. The treatment is likely to cost £1 million or more, which could be too expensive for the NHS to cover. It begs the question: will it only be available via private healthcare? Does it mean that patients with a low-income background will not be able to gain access to this treatment? The pharmaceutical company involved, Vertex, will want the treatment to be widely used, so a price that health services can afford is important. Hopefully, this treatment will be available through the NHS.

 How can we lift the lid off sickle cell disease awareness?

There is still a limit on the awareness of the usual struggles SCD patients face. More can be done to educate people on this and encourage proactivity from the public.

Give blood to the African Caribbean community

There is an increased demand for some rare blood subtypes that are more common in people of African and Caribbean heritage, so there is a demand for more black people to become blood donors. This is especially important for SCD patients who have regular blood transfusions.

Support Sickle cell disease charities

 'The Sickle Cell Society is the only national charity in the UK that supports and represents people affected by a sickle cell disorder to improve their overall quality of life.’ This charity is there to support those living with sickle cell disease regardless of ethnicity or sex. They advocate for the right to quality care and educate people about the disease. Support from the public is vital for the society, so any support you can give will help those living with SCD.

Engaging in conversations that challenge the disparities that SCD patients face within healthcare whether it is due to their disease, their ethnicity, or any other factors.

Educating others

The more it is talked about, the more people learn about it. The media is a powerful tool, so talking about it online is also very important.

We can create a future with health equity for sickle cell disease patients if treatment is accessible to those who need it, the voices of SCD patients are heard and healthcare professionals are ready to listen.