World-first genotyping test that could transform care for people with sickle cell

The NHS has become 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. Some 18,000 people in England will now be eligible, with UCLH having played a vital role in the proposal and development of the testing programme.

It is hoped that DNA analysis of a patient’s blood groups will, in the future, allow for more accurate matching for people who need transfusions and help find the best compatible blood for patients with complex requirements.

UCLH, alongside NHS Blood and Transplant (NHSBT) and Cambridge University Hospitals, made the original proposal for the development of the test, paid for via an NHS England funding award of £850,000 to NHSBT.

Dr Sara Trompeter, consultant haematologist at UCLH, has been key in this programme of work.

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 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.

Sara Trompeter 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.”

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.”

UCLH patient Ama Aryee (pictured) a 34-year-old 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.”

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.”