Innovative Trials are passionate about ensuring our diverse population is adequately represented within medical research. Whether it is wanting to see more people from underrepresented communities choosing science as a career and pushing for greater patient diversity in clinical trials or focusing on what we are doing internally to celebrate and promote equality and diversity. This month we celebrate Sickle Cell Awareness Month. So far the Equality, Diversity and Inclusion Committee at Innovative Trials has written blogs to raise awareness surrounding several illnesses, their effects, and treatments such as World Lupus Day, Malaria, and Pride Month.

Sickle Cell Disease: What is it and how was it discovered?

Sickle Cell Disease (SCD) is a hereditary blood condition characterized by abnormal hemoglobin, which impairs the ability of red blood cells to effectively transport oxygen around the body. The ‘sickle-shaped’ cells, first discovered in 1910, tend to cluster and block blood vessels, which can lead to further health complications. (John Hopkins Medicine, 2019) 

To better understand the illness, it is important to understand its history:

  • 1910 – A physician, James Herrick, noticed ‘sickle shaped’ blood cells in a 20-year-old student, thus coining the name ‘sickle-cell disease’.
  • 1927 – It was determined that the cause of the irregularly shaped blood cells was due to a lack of oxygen in the bloodstream. 
  • 1949 – Nobel Prize winner Linus Pauling named it the first ‘molecular disease’ by Linus Pauling 
  • 1957 – It was discovered that the abnormal hemoglobin was caused by an inherited genetic mutation. 
  • 1960 – It was found that blood transfusions can be used to treat sickle cell disease.

(Red Cross Blood, 2023) 

What are the symptoms of SCD? 

Symptoms of the condition vary, the most common symptoms include:

  • Sickle cell crisis – This is a severe pain caused by the blockage of blood vessels (affecting anywhere on the body) which can last as long as hours or days. 
  • Infections – People with SCD are more susceptible to infections, especially children. 
  • Anemia – This is the most common symptom because there is less hemoglobin carrying oxygen in the bloodstream, which results in symptoms such as dizziness, fainting, and headaches.

(NHS, 2023) 

Details of more specific symptoms can be found on the NHS website. 

Who are most commonly affected and why?

SCD allows an increased resistance to malaria for those who have it. As a result of evolutionary adaptation to malaria, ethnic groups and those with ancestry originating in Africa, Central and South America, South Asia, and the Middle East, are more susceptible to inheriting the disease (Solovieff et al, 2011). In 2010, 7.3% of black newborns were reported as having the sickle cell trait (Ojodu et al, 2014). 

Determining the differences: Sickle Cell Disease, Sickle Cell Anemia, and Sickle Cell Trait

SCD categorizes a group of genetic blood conditions, the most common being Sickle Cell Anemia. To have the disease requires the presence of two abnormal hemoglobin genes. If there is only one inherited gene, this is known as Sickle Cell Trait. This is a much milder form of SCD and not really considered an illness, unless in certain extreme circumstances where it can increase the risk of death (patient.co.uk, 2023). More rare forms of SCD involve the combination of one sickle cell gene plus another abnormal hemoglobin gene of a different type.

What is the diagnosis and treatment for SCD?

As SCD is a genetic condition, a diagnosis is determined by a blood test or screening during pregnancy or soon after birth to see if the child carries the genetic mutation. 

All pregnant mothers and newborns in the UK are eligible for screening. However, blood tests are based on location. In areas where sickle cell is more prevalent, a blood test will be done. If not as prevalent, then pregnant/new mothers will be asked to answer a questionnaire about their heritage to determine if they are part of a particularly vulnerable demographic (NHS, 2023). 

Once diagnosed, SCD requires lifelong treatment. However, there are a variety of treatments available that can manage the severity of SCD and subsequent health complications: 

  • Self-care – drinking lots of fluids, avoiding sudden temperature changes, and keeping warm. 
  • Medicine – hydroxycarbamide or crizanlizumab can help ease pain associated with SCD and taking over-the-counter medications like paracetamol may also help. 
  • Antibiotics – help prevent infections. 
  • Blood transfusions –  help manage the effects of SCD. 

(NHS, 2023)

Stem cell or blood marrow transfusions are the only known cure for SCD. However, this procedure is high-risk and is therefore not commonly done. The procedure involves harvesting and transfusing stem cells from a healthy donor. These cells can produce healthy blood cells for the recipient, which can help nullify the effects of their sickle cells. It is risky because of Graft versus host disease (GvHD), which can happen if the new stem cells attack other healthy cells in the body. (NHS, n.d) 

What is being done to help this condition?

Black and other ethnic minority groups are more likely to have rare blood types such as Ro (a variation of the Rh-positive blood type). Thus, there are currently various blood bank drives to encourage donations from within these groups. This can help not only those who have SCD but also those with rare blood types that make it more difficult for them to receive the frequent life-saving treatment they need (NHS, 2023). 

There are also ongoing drives to get more people to donate blood in general, to read more about this visit the NHS’ Blood and Donation website. 

There are over 700 active clinical studies trying to improve the severity of the condition, to read more details visit the National Library of Medicine for more details. 

 

References: 

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