Groundbreaking gene therapy could tackle sickle cell anaemia


University of Michigan School for Environment

A recent study by the University of New South Wales, the Japanese Red Cross Society and the RIKEN BioResource Centre in Japan could bring new hope to sickle cell anaemia patients all over the world. The study, published in haematology research journal Blood, details how pioneering gene therapy could be used to ‘switch on’ production of foetal haemoglobin in sufferers with damaged adult haemoglobin, a vital molecule that transports oxygen around the body in our red blood cells.

Sickle cell anaemia is a genetic condition that causes unusually-shaped red blood cells that struggle to carry oxygen around the body adequately. Around an estimated 5% of the world’s population carry genes that are responsible for this disease, which leads to crises of pain, increased risk of infections, strokes, lung problems and even organ failure. Overall life expectancy is reduced, and in many cases patients die in infancy. A spotlight was cast on sickle cell anaemia earlier this year, when 42-year-old US rapper Prodigy passed away due to complications arising from the disease.

In the UK, it’s mainly people from Caribbean or Asian backgrounds that carry this painful and debilitating disease, and at present the treatment options available to patients are limited. This can mean a lifetime of discomfort and limitation, unless extreme and risky options like stem cell or bone marrow transplants are considered. It’s great to see some strides being made in this area, and hopefully this breakthrough can pave the way for more extensive research into potentially curing sickle cell anaemia.

University of Michigan School for Environment

So, how does the treatment work? Using a gene therapy technique known as CRISPR, UNSW scientists have been able to ‘precisely cut and alter’ individual genes, removing faulty genes and splicing in a natural genetic mutation called British-198. This beneficial mutation is caused by a change in just a single letter of genetic code, and was discovered in a large British family in 1974. It occurs in some sickle cell anaemia patients, and causes their red blood cells to continue producing foetal haemoglobin for their entire lives, rather than ceasing production during infancy as in non-sufferers. This extra foetal haemoglobin does the oxygen-carrying work of adult haemoglobin, allowing blood haemoglobin levels to boost up to around 20%. This could lead to a large reduction in symptoms for many patients.

This breakthrough is only the first step, however. Gene therapy is still very much regarded as an ‘experimental’ therapy with a fair amount of risk involved, and much more thorough research is needed before such treatments can be made available. UNSW molecular biologist and the author of this study, Professor Merlin Crossley, says "Because this mutation already exists in nature and is benign, this 'organic gene therapy' approach should be effective and safe to use to treat, and possibly cure, serious blood disorders. However, more research is still needed before it can be tested in people.”

With further research, the potential for treating life-threatening and life-altering disorders is great. Scientists across the world have already studied and acknowledged the likelihood of being able to treat and even cure various cancers, thalassaemia, haemophilia, cystic fibrosis and even AIDs. In a world where cancer is the single biggest killer, this could be a truly exciting prospect, though we may not see a tangible form of treatment for many years to come. Pioneering treatment techniques such as this are extremely important in providing hope for patients all over the world, and we’re really excited to see where this groundbreaking research will lead.

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