Publish date: 25 May 2023

UCLH will play a lead role alongside Cambridge University and NHS Blood and Transplant (NHSBT) in the NHS roll out of a genetic test to improve blood transfusions for people with inherited blood disorders.

All people with sickle-cell disorder, thalassaemia and transfusion-dependent rare inherited anaemias will be offered the new genetic blood grouping test which was developed through the Blood Transfusion Genetics Consortium (, of which UCLH is a member. NHSBT who will be performing the testing, hope to accept samples by Summer 2023.

UCLH, alongside 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. The test will provide detailed DNA analysis of a patient’s blood group, to support the more accurate matching of blood transfusions in the future. As well as reducing the risk of harm to patients, better allocation of blood for transfusion will reduce waste and inefficiency and mean the NHS is making best use of donated blood.

This programme of work will particularly benefit those with sickle cell and thalassaemia, the majority of whom are from diverse ethnic backgrounds.

Dr Sara Trompeter, consultant haematologist at UCLH and Principal Investigator for the BGC, has been key in this programme of work.

UCLH is well placed to be a lead site in the delivery of the test, due to its scale of activity in haematology and as a designated NHSE Haemoglobinopathy Coordinating Centre.

The genetic test is allied with an initiative called Haem-Match (, led by Dr Trompeter and colleagues at NHSBT/Cambridge, which aims to improve outcomes for patients with sickle cell disorder and other heavily transfused patients.

The National Institute for Health and Care Research (NIHR) UCLH Biomedical Research Centre’s new Haematology theme is founded in part on the work and has contributed substantially to the project.

The work provides a basis for developing stronger links between UCLH and our partner hospitals across North Central London Integrated Care System, including North Middlesex University Hospital and Whittington Health.

Which patients are most affected?

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.

There are around 17,000 people living with the disorder 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 too little haemoglobin, which is used by red blood cells to carry oxygen around the body, leaving some people dependant on regular blood transfusions.

Thalassemia is mainly seen in those with an Asian, Middle-Eastern 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 transfusion dependent rare inherited anaemias.

The most common way to treat these conditions is via blood transfusion from donors.

Almost a fifth of patients (17%) with sickle cell disorder and almost a quarter of those with thalassaemia (22%) experience side-effects after a transfusion because of inadequately matched blood, with the main source of blood for transfusions being people with European ancestry.

Complications of a mismatch between a patient’s blood and donor blood include the formation of antibodies that attack the donor red blood cells. 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.

How will the genetic test help?

Blood groups are the markers on red blood cells. There are many different blood groups. Some are well known such as the ABO system. However, there are 300 known blood groups, often known as minor blood groups. If patients receive blood with a minor blood group that doesn’t match their own, they can develop antibodies which make it more difficult to find blood they can safely receive. This is a real problem for people who may receive many transfusions over their lifetime.

This programme is an important step forwards as patients with these disorders, and the teams looking after them, will now know many more of their blood groups, making it easier to match their blood, improving the safety of blood transfusion.

The test will also test their Human Leukocyte Antigen (HLA) type (commonly known as the tissue or bone marrow type), so people who are eligible for a stem cell transplant will have taken the first step already. 

This programme will complement an existing programme in NHSBT to genotype a number of blood donors. Using both the donor and the patient data will enable the NHS to provide the best possible transfusion outcomes. This will reduce future antibody formation and, for people who have already formed antibodies, there will be an increased likelihood of finding appropriately matched blood for them.

Dr Trompeter said: “The work of the Blood transfusion Genomics Consortium has been extraordinary – the blood group genotyping test promises to allow a better understanding the extended blood groups of our patients. As the programme progresses and more donors are tested too, we will be in better position to match blood more precisely, reducing the complications all too often experienced by our patients with sickle cell and thalassaemia. We are grateful for all the support of the blood donors, patients, researchers and colleagues who have made this possible and we look forward receiving the first samples at NHSBT this summer!”

UCLH director of research Professor Bryan Williams said: “This work focuses on populations who have not often been included in research studies, and the programme will increase the diversity of our recruitment into studies, which is a key objective of our research at UCLH.

“We also welcome its potential to help us develop stronger links with our partner hospitals.

“This is alongside the fact that, ultimately, this will improve the accuracy of blood matching using genomics and AI, and reduce the chances of these multi-transfused patients becoming immunised against blood antigens which makes later cross-matching so much more difficult for them. We hope this project will yield lifelong benefits for our patients.”

NHS chief executive Amanda Pritchard said: "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."

Health minister Neil O’Brien said: "This £1 million investment in genotyping is a potential game-changer.

"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."