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Thousands of people with inherited blood disorders to get world-first NHS test to curb transfusion side effects

From today, almost 18,000 people in England with sickle cell disorder and thalassaemia can have a world-first genetic test to better match future blood transfusions, reducing the risk of side effects.

The NHS is the first healthcare system in the world to provide this new blood group genotyping test. The DNA analysis of a patient’s blood groups may allow for more accurate matching for people who need transfusions and help find blood for patients with complex requirements. Donor blood will also be tested.

Transfusions are commonly used to treat rare inherited blood disorders but around a fifth of these patients develop antibodies against certain blood groups from previous transfusions. 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, thalassemia 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.

We very much support this genetic test which will benefit patients with inherited blood disorders such as sickle cell and thalassaemia.

Dr Martin Besser, Consultant Haematologist, CUH and North London Anglia Red Cell Network
Dr Martin Besser
Dr Martin Besser, CUH Consultant Haematologist

He added: "By knowing their blood group genotype, these patients will be able to access the best matched blood for transfusions, whether planned or emergency. It will also reduce the risk of long term complications.”

Existing methods of blood matching use only two major blood groups, while the blood group genotyping test uses all clinically relevant blood groups.

Dr Kate Downes, Lead Scientist for Rare and Inherited Disease, East Genomic Laboratory Hub at CUH

Dr Kate Downes added: "This extra information provides much more accurate matching of blood, especially for individuals with diverse ancestral backgrounds that require repeated transfusions, such as those with sickle cell and thalassaemia in the UK. This is a really exciting outcome of the NHSBT blood cell genomics program."

This world-first test is yet another example of the NHS leading the way to transform care and improve outcomes for patients.

NHS chief executive Amanda Pritchard

Amanda Pritchard continued: “Being able to provide high quality clinical care to people with inherited blood disorders is an important step 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.”

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.”

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.”

Mum Ama Aryee, aged 34, a science teacher from Cheshunt in Hertfordshire, who has sickle cell, developed antibodies after emergency blood transfusions for complications from pneumonia.

It’s now very difficult 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.