Key Information
Over the last few months, there have been multiple reports on new treatments for sickle cell disease. In this feature, we highlight the biggest updates in this field and think about what the future might hold.
What is sickle cell disease?
Sickle cell diseaseexternal link, opens in a new tab is a genetic blood disorder, characterised by defective haemoglobin in red blood cells. Haemoglobin is responsible for the transport of oxygen throughout the body, and the mutation responsible for the disorder leads to abnormal haemoglobin that causes the red blood cells to form a ‘sickle’ shape. These defective cells are prone to clumping together and can obstruct blood flow. This can result in what is known as vaso-occlusive events or crises – episodes of severe pain, and in in extreme cases, organ damage – as well as increasing the infection risk in patients.
The disease is inherited in an autosomal recessive manner. It stems from an A•T point mutation in the haemoglobin-beta gene (HBB), and predominantly affects those of African descent. The condition is relatively common – over 20 million individualsexternal link, opens in a new tab worldwide suffer from the disorder, with over 100,000 of these patients living in the USA. Sickle cell disease can be debilitating, leading to significantly decreased life expectancy, and medical needs have been historically unmet. Treatments thus far have targeted the symptoms of the disease, but these can be costly and invasive, such as stem cell transplants from healthy donors. However, of recent, new treatments have been making their way closer to the clinic.
Gene editing shows promise
In recent years, rapid technological advancements have meant that we can get to the bottom of, and potentially treat, the genetic defects responsible for some inherited conditions. Sickle cell disease is no exception. In fact, over the last couple of years, several potential therapies have been in the spotlight.