It’s widely known that sickle cell anaemia is an incurable genetic disease that stems from an inherited flaw within someone’s genes. The flow causes haemoglobin within the body’s red blood cells to be abnormal, distorting and elongating the shape of the red blood cells as a whole.
To combat the disease, most people’s only choices are strong prescription pain medication for the “attacks” (periods of terrible pain caused by the sickled cells blocking blood flow), regular blood transfusions or changes to their lifestyle to ease the symptoms.
In addition to the methods listed above, scientists have been developing methods to edit a sickle cell patient’s genes to combat the deformed red blood cells. This new treatment has the potential to change the lives of hundreds of thousands of people who suffer from sickle cell anaemia globally.
Jimi Olaghere is someone who has been struggling with sickle cell since childhood, but his life changed when he was one of 7 recipients of a gene-editing treatment trial.
“When I look back, it’s like, ‘Wow, I can’t believe I lived with that.'” Jimi told BBC. “It’s like being born again,” he added after being asked about the trial. (BBC, 2022)
Sickle cell anaemia is a very painful thing to go through, and Jimi marvels about how he was able to combat it. He said this when asked about how the disease felt: “shards of glass flowing through your veins or someone taking a hammer to your joints”.” You wake up in the morning with pain and you go to bed with pain.” (BBC, 2022)
In the trial, scientists would genetically engineer his body so that the deformed haemoglobin can no longer be produced, making his population of healthy red blood cells go back to normal. Firstly, they had to get to the bone marrow to get the red blood cell producing stem cells. They then proceeded to give him medication that would get the stem cells into the bloodstream, and then an apheresis machine would gather.
Collecting the stem cells is only the first part of the process. Scientists discovered that sickle cell anaemia only affects adult haemoglobin, not the ones babies in the womb have (foetal haemoglobin). A genetic “switch” would change the type of haemoglobin being produced. This change in production was named BCL11A after being discovered in the 2000s. Once scientists identified this system, they figured out a way to switch it back.
This proved to be the key to the puzzle of genes and sickle cell anaemia.
“Our approach is to turn that switch off and increase the production of foetal haemoglobin again, basically turning the clock back,” said Dr. Haydar Frangoul, a doctor who helped treat Jimi at the Sarah Cannon Research Institute. (BBC, 2022)
This revolution in modern medicine changed Jimi’s life, along with the other lucky trial participants.
“I remember waking up without any pain and feeling lost,” he said to reporters. “Because my life is so associated with pain, it’s just a part of who I am. It’s weird now that I don’t experience it anymore.'” Jimi said. (BBC, 2022)
One day, this amazing treatment should be available for many people, but for now, it’s an expensive and difficult process. Though difficult, it’s an amazing advancement, and we will continue making bounds in the right direction heading into the future.
References:https://www.bbc.com/news/health-60348497