The NHS is set to introduce a new genetic blood-matching test for thousands living with sickle-cell disease or thalassemia that could reduce painful side-effects of transfusion treatments.
As it marks its 75th year, the NHS is to become the first healthcare system in the world to provide blood group genotyping – a detailed DNA analysis of each patient’s blood group – to more accurately match those in need of transfusions to donated blood.
The landmark new programme, delivered in partnership by NHS England and NHS Blood and Transplant (NHSBT), will help ensure patients receive the best treatment for them, reducing the risk/impact of reactions to donor blood and the development of antibodies that attack the donor blood cells.
Sickle cell disease – which triggers intense pain after red blood cells become sticky, block vessels and restrict oxygen supply – is particularly common in people of Black African and Caribbean heritage. There are around 17,000 people living with the disease in England, with 250 new cases per year. These patients receive more than 10,000 units of blood per month through NHSBT.
People with thalassemia produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body, and this can cause chronic tiredness.
Thalassemia is mainly seen in those with an Asian and Southern Mediterranean heritage, with about 800 patients in England and less than 50 new cases each year. The test will also help patients living with other rare inherited anaemias.
The most common way to treat these conditions is via blood transfusion from donors.
Up to a fifth of patients (17%) can experience bad side-effects after a transfusion because of inadequately matched blood, with the main source of blood for transfusions being people with European ancestry.
These side effects can lead to transfusion reactions and make it difficult to find enough blood for future transfusions. The effects of this can be severe, leading to a patient’s condition deteriorating and in some very rare cases it can lead to death.
A similar programme for donors will eventually result in patients with sickle cell and Thalassemia receiving better-matched blood, reducing the development of antibodies and leading to better care for patients.
Although blood is matched to the ABO and RhD groups – there are many other blood groups for which blood is normally not matched between patient and donor. This can lead to the production of antibodies to attack the donor’s red blood cells.
To tackle this, NHS England is providing funding of almost £1 million to NHSBT to provide blood group genotyping in its specialised molecular diagnostics laboratory. Once a donor database is developed –– this will match all patients with Sickle Cell and Thalassemia needing a blood transfusion more accurately, stop the development of antibodies and lead to better care for patients.
NHS chief executive Amanda Pritchard said: “This fantastic new programme will significantly transform care for people living with sickle cell disorder and thalassemia – by using blood group genotyping, harmful side effects of transfusions will be reduced, hugely boosting patients’ quality of life.
“These conditions can be deeply debilitating and we know the barriers that this patient group can often face when accessing care – as this new programme shows, we are determined to continue to make improvements and do everything we possibly can to help these patients to lead normal lives.
“Throughout its 75 year history, the NHS has led the world in embracing innovation to transform care for our patients – this world first is just the latest example of this.”
Dr Andrea Harmer. NHS Blood and Transplant’s Genomics Programme Director, said: “An important part of our role is providing donated blood for patients who need transfusions but our work goes much beyond that, providing world class scientific services to make blood transfusions even safer.
“The new genotyping technology being used in this project was developed by an international consortium of which NHSBT is one of the founding members. It received critical support from the NIHR.
“Our scientific work can only help patients if we have blood donors and the demand for ethnically matched blood is on the rise. You can register as a donor at www.blood.co.uk.”
Health Minister Neil O’Brien said: “This £1 million investment in genotyping is a potential game-changer in tackling the painful side effects many sickle-cell disease and thalassemia sufferers experience following a blood transfusion. It could also be used to stop the progression of the diseases in their tracks.
“Matching blood more accurately is vital for sickle-cell and thalassemia patients – we urgently need more blood donors from these communities to come forward as they are more likely to have the necessary blood type vital to treat these disorders.”
Stephanie Danso, 30, from Oxford, has sickle cell and receives a red cell exchange every six to eight weeks at NHS Blood and Transplant’s Oxford Therapeutic Apheresis Service Unit.
Stephanie has previously endured severe sickle cell crisis episodes that have left her in intensive care. Stephanie is in the complex patient group because it is difficult to find blood which she can safely receive, and in the past she has developed blood group antibodies from transfusions.
But genetically testing her extended blood group should, in the future, help her receive the best matched blood, reducing the risk of developing even more antibodies.
About 19% of Stephanie’s blood contains the sickle haemoglobin, even after treatment. Receiving regular blood transfusions is vital to cutting the risks of potentially fatal organ damage and strokes.
Stephanie said: “A lot of people think you only need a blood transfusion during a crisis, however for me they don’t just save my life, they also give my body a future chance of survival.
“They’ve allowed me to get on with the day-to-day activities that most people take for granted as well as reduce the painful episodes. I still have crises sometimes but the transfusions give me a greater chance of surviving them.
“There are still days when I feel exhausted and face challenges but thanks to the transfusions I lead a happy life with lots of friends and I am working as a professional.
“I know it’s difficult to find well-matched blood for me now. I have antibodies from past transfusions. The new blood group genotyping will mean I can receive the best-matched blood in the future with less chance of developing more antibodies and less chance of not being able to receive blood at all.”
Dean Wiltshire, from Huddersfield needs regular blood transfusions for sickle cell, but like Stephanie has developed antibodies after struggling to find a matching blood for transfusion.
The 40-year-old dad of three boys gets nine units of blood every six weeks at NHS Blood and Transplant’s specialist therapeutic apheresis services unit in Leeds.
The NHSBT blood matching team has to work hard to find suitable blood and on occasions, he has to have reduced transfusions because not enough blood could be found.
Blood group genotyping would mean better-matched transfusions and more suitable blood could be found for him. Dean would also have less chance of developing more antibodies in the future.
Dean, who works as a business support officer for Kirklees, had his first sickle cell crisis aged four.
He said: “I would be in excruciating pain and only morphine would help.”
His sickle cell has caused him to have a stroke in 2010 at the age of 28, leaving him with reduced movement in his left arm.
Dean said: “Since having the stroke and starting red cell exchange blood transfusions, it feels like a temporary cure as my sickled cells are replaced with normal red blood cells.
“I want to thank all of the donors who give blood – without them I wouldn’t be here today and I am just one person, imagine how many thousands of people have been saved.
“I also want to encourage more people from the Black community to give blood as they are so important in saving the lives of people with sickle cell.”
He said of blood group genotyping: “I’ve been told I’m like a celebrity to the team who finds matching blood, because it’s so hard to find matching blood for me.
“On occasions I’ve only been able to have six or seven units of blood instead of nine because there was not enough.
“It is a worry that over time it gets more and more difficult to find blood and I stop getting transfused. I would get more unwell, with more crisis episodes and more complications.
“So I will definitely be getting the blood group genotyping and I think everyone who can get it should consider it, there are thousands of people out there in need who need treatment.”
John James, Chief Executive of the Sickle Cell Society, said: “Ensuring people living with Sickle Cell Disorder get the best possible care and support is the priority for the Sickle Cell Society, which is why I am delighted to support the launch of this new programme.”
“Its use of cutting-edge technology to help reduce the side effects people can experience when they receive a transfusion will make a huge difference for people living with SCD and help tackle the health inequalities experienced by the families and communities we support.”
Roanna Maharaj, Vice Chair at The UK Thalassaemia Society, said: “We wholeheartedly support the combined progressive decision of NHS England and NHS Blood and Transplant in offering blood group genotyping to all individuals living with transfusion-dependent thalassaemia in England.
“This new initiative will help ensure individuals living with transfusion-dependent thalassaemia receive blood transfusions that are safer, more effective, and better matched to their needs to reduce the risk of transfusion reactions and other complications.
“It is a step in the right direction towards improving the quality of life for those living with thalassaemia and we commend the effort. We look forward to welcoming these changes in Scotland, Wales and North Ireland.”
For people to benefit the most from the testing, there is an ongoing need for more donors of black and South Asian heritage. Register as a blood donor at www.blood.co.uk near the end.