First patients with inherited blood disorders to get world-first NHS test to curb transfusion side effects

From today (Monday 22 January), thousands of people with sickle cell disorder and thalassaemia in England will have access a world-first ‘blood matching’ genetic test on the NHS to better match their blood transfusions, reducing the risk of side effects and offering more personalised care.

The NHS today becomes the first healthcare system in the world to provide a new blood group genotyping test which is set to transform care for patients living with sickle cell disorder and thalassaemia, with almost 18,000 people in England now being eligible.

The DNA analysis of a patient’s blood groups may allow for more accurate matching for people who need transfusions and help find the best compatible blood for patients with complex requirements, with some donor blood being tested in a parallel programme.

Life-saving transfusions are commonly used to treat rare inherited blood disorders, but around a fifth of patients develop antibodies against certain blood groups following transfusion. They can then experience delays to treatment due to the difficulty in finding enough matching blood and sometimes blood transfusion reactions.

To help improve blood-matching and reduce the risk of antibodies developing, NHS England, in partnership with NHS Blood and Transplant (NHSBT), is encouraging patients with sickle cell, thalassaemia and transfusion-dependent rare inherited anaemias to have this test taken alongside their routine hospital blood tests.

In England, there are around 17,000 people living with sickle cell disorder, with 250 new cases a year. The disorder can result in severe organ damage and intense pain if damaged red blood cells block vessels and restrict oxygen supply – it is more common in people of Black African and Caribbean heritage. 

People with thalassaemia cannot produce enough haemoglobin, which is used by red blood cells to carry oxygen around the body, causing severe anaemia, which can be fatal if not treated. Thalassaemia is mainly seen in those with an Asian, Middle Eastern, Southern Mediterranean heritage, with about 800 patients in England and less than 50 new cases each year.

The blood group genotyping test will also help patients living with transfusion-dependent rare inherited anaemias, such as Diamond Blackfan Anaemia, a disorder that affects people’s production of red blood cells.  

Professor Bola Owolabi, Director of the National Healthcare Inequalities Improvement Programme at NHS England, said: “This world-first test is yet another example of the NHS leading the way to transform care and improve outcomes and quality of life for thousands of patients with sickle cell disorder and thalassaemia.

“Being able to provide high-quality and more personalised care to people with inherited blood disorders is an important step forward in helping to reduce health inequalities and this innovative test will greatly improve quality of life for people living with these disorders. I urge those eligible to ask their clinical teams about the test and to accept if they are invited to take part.”

Mum Ama Aryee, aged 34, a science teacher from Cheshunt in Hertfordshire, who has sickle cell disorder, developed antibodies after emergency blood transfusions for complications from pneumonia. It’s now very challenging to find matching blood for her if she needs a transfusion – usually, there are only between two and four units of blood in the country which she could safely receive.

Ama said: “The doctors and laboratory team find it very difficult to find matching blood for me. It is a worry to know that if there was an emergency and I needed blood it would not be straightforward to find enough. I try not to dwell on it but it’s there in my mind. It’s a bit scary to think about future pregnancies or problems with sickle cell, I am well aware that there’s almost no blood I can receive at the moment.

“I definitely support people getting their blood groups tested – if I’d had this test several years ago before my transfusion, I might not have antibodies now. And if this new testing could help people like me receive blood again that would be wonderful.

“The doctors, nurses and laboratory staff have been absolutely incredible at University College London Hospital – tirelessly working hard to ensure that everything goes according to plan. We are incredibly grateful.”

Sara Trompeter, NHS Blood and Transplant Consultant Haematologist, said: “Knowing the extended blood groups of patients, alongside the similar programme in the donor population is a necessary step to improve the ability to match blood for our patients, improving transfusion care.

“The initiative will rely on patients attending hospital and having their blood sent to NHS Blood and Transplant for testing. We strongly encourage clinical and laboratory teams to work with patients to support this programme.”

Ryan Mullally, Consultant Haematologist at Whittington Health NHS Trust, said: “While blood matching for patients with inherited blood disorders, including sickle cell disease and transfusion-dependent thalassaemia is already done to a high standard, we can learn more and develop better blood matching further by using this exciting new world-leading test. We are keen to raise awareness of it among patients and specialist medical and nursing teams involved in their care.”

Health Minister Andrea Leadsom said: “Thousands of people living with sickle cell disease and thalassaemia will be eligible for this new world-first blood test which is set to transform their care. This is a huge step forward in improving the quality of life for people who are living with these blood disorders. This is another example of the NHS leading the way in healthcare.”

John James, Chief Executive of the Sickle Cell Society, said: “We welcome this significant advancement in enhancing care for individuals with sickle cell disorder. Blood transfusions continue to be crucial in the treatment of sickle cell disorder, and our 'Give Blood Spread Love' campaign has been encouraging blood donation among individuals of black and mixed heritage.

“With the introduction of this innovative test, we take a remarkable stride towards achieving better blood matches for all those living with the condition. We urge individuals with sickle cell disorder to have the blood test as it will not only support more accurate treatment but also hold the potential to save more lives in the future.”

Roanna Maharaj Public Health, Education and Patient Advocacy Lead at the UK Thalassaemia Society, said: “We wholeheartedly support the progressive decision to offer blood group genotyping to all individuals living with thalassaemia in England. This new initiative will help individuals living with thalassaemia receive blood transfusions that are better matched to their needs to reduce the risk of transfusion reactions and other serious complications.

“We encourage individuals with thalassaemia and other inherited anaemias to consider getting the new DNA typing test, as it holds the promise of shedding light on your unique blood group genetic makeup, allowing for personalised blood matching care in the future and better management of your condition.”