World-first NHS test to curb transfusion side-effects for thousands with Inherited Blood Disorders

The NHS is set to introduce a new genetic blood-matching test – developed through a collaboration with partners including the NIHR BioResource - for thousands living with sickle-cell disease or thalassaemia that could reduce some of the side-effects of transfusion treatments.

NHS graphic with black female patient in hospital gown stating 'Better matched transfusions for sickle cell, thalassaemia and rare anaemias - Blood Group Genotyping Programme'

As it marks its 75th year, the NHS is to become the first healthcare system in the world to provide blood group genotyping 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 thousands of patients living with sickle-cell disease or thalassemia receive the best treatment, reducing the risk/impact of reactions to donor blood and the development of antibodies that attack the donor blood cells.

BioResource contribution to the new testing array

As a member of the Blood Transfusion Genomics Consortium (BGC), the NIHR BioResource helped develop the testing array that makes this new genotyping programme possible. More than 5,000 STRIDES (STrategies to Improve Donor ExperienceS) BioResource volunteer participants had their DNA genotyped as part of the validation/clinical study phase. The genetic results were then compared to blood groups determined the traditional serological way. This showed the new testing array is an effective and efficient method to getting a detailed level of blood group genotyping, which can be used to better match patients with donors and helped secure regulatory approval for the genotyping chip.

By the end of 2023/early 2024, all STRIDES participants will have been genotyped using the new chip.

The BGC is an international partnership, for which the National Institute for Health and Care Research (NIHR) has provided critical funding and support, including through the NIHR Research Units at NHSBT and the NIHR BioResource.

Who does this affect most?

Sickle-cell disorder – 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. Meanwhile thalassemia – caused by the underproduction of haemoglobin, which is needed by red blood cells to carry oxygen around the body - is mainly seen in those with an Asian, Middle Eastern and Southern Mediterranean heritage.

For these ethnic groups, it is difficult to find an appropriate donor, because the main source of blood for transfusions comes from people with European ancestry. Inadequately matched blood means that almost to a fifth of patients (17%) with sickle and almost a quarter of those with thalassemia (22%) experience negative side-effects after a transfusion. 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. The new genetic blood-matching test hopes to mitigate the increased risk that these patients face.

Nevertheless, it highlights just one of many cases in which diverse ethnic groups are disproportionately affected by health inequalities in the UK. One of many contributing factors behind this reality is a lack of representation of these groups in health research. Those who are represented in research directly benefit from research outcomes, such as the development of treatment. Therefore, it is vital to increase the diversity of volunteers in health research studies, so that those groups receive the same benefits.

How the BioResource is working to drive change

Through our recently launched partnership with community engagement agency Egality Health, the NIHR BioResource are collaborating with eight community organisations to help address lack of representation in research by engaging and onboarding a new wave of volunteers from South Asian and Black communities in England.

Working alongside Research Black, an organisation dedicated to amplifying patient voices and addressing the underrepresentation of black communities in medical research and one of our community partners, is Dr Joyce Omatseye, who is an NHS GP in London.

In a video for our campaign, Dr Omatseye explains how volunteers at the BioResource have already been involved in studies supporting sickle-cell patients, such as the RESTORE Trial and encourages more people from diverse backgrounds to take part in research via the BioResource.

The RESTORE (recovery and survival of stem cell originated red cells) Trial, is another collaboration with long-term partner NHSBT, and further supports our efforts to support patients living with Inherited Blood Disorders such as sickle-cell and thalassaemia. The world-first clinical trial saw 10 BioResource volunteers successfully receiving transfusion of laboratory grown red blood cells at the end of last year.

Alongside the potential for lab-grown red blood once clinically viable at scale, the introduction of the new genotypic testing offers hope, as it will lead to patients receiving better matched blood, reducing the development of antibodies and improving patients’ quality of life.

Dean's struggle to find a donor match - sickle-cell patient

40-year-old Dean Wiltshire, from Huddersfield, needs regular blood red cell exchange blood transfusions, but has struggled to find a suitable blood match, causing him to develop antibodies. On occasions he has had to have reduced transfusions due to insufficient suitable blood available. Blood group genotyping would mean better matched transfusions and more suitable blood could be found for him. Ultimately, this will improve health outcomes for him and reduce complications.

Photo of Dean Wiltshire
Dean Wiltshire

Dean comments on the introduction of the new test:

“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.

"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."

How can you help?

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 near the end.

If you are interested in volunteering with the BioResource to be part of future research we support, whether or not you have a health condition, we’d love to hear from you. All of our volunteers are consented to the NIHR BioResource and will be re-contactable to participate in further research, following standard protocols for being a BioResource volunteer.

You can keep up to date with NIHR BioResource on Twitter and LinkedIn.

If you are a researcher interested in working with the NIHR BioResource to support your work, please get in touch.

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