Frequently Asked Questions

NHS England (NHSE) is working with NHS Blood and Transplant (NHSBT) on a new national programme of work to better identify blood groups for all current patients in England living with inherited anaemias including Sickle Cell Disorder and Thalassemia and transfusion dependent rare inherited anaemias. This test will also be made available to those living in Northern Ireland, Scotland and Wales in due course.

The programme aims to use a DNA testing array, developed by the international Blood transfusion Genomics Consortium, to provide extended blood group genotyping and HLA typing.

Through this programme, together with a programme that is being rolled out in the donor population, it will over time be possible to identify better matched blood for transfusion and so reduce antibody formation.

NHS Blood and Transplant (NHSBT) has developed a new form for this test. The form was made available as an electronically editable PDF on the International Blood Group Reference Laboratory website (IBGRL), before the start of the programme to allow hospitals to embed the ordering into their order comms system where possible.

Download form on the IBGRL website.

Unlike previous NHSBT forms, this will not be provided as a paper form but can be printed in black and white.

There are three choices that hospitals can explore:

• Printing out the form and filling it in by hand
• filling in the editable PDF electronically and then printing out the form
• embedding the contents of the form into the hospital electronic ordering system, and then printing out that form.

All samples must be accompanied by a paper form.

Please ensure that all patients with sickle cell and thalassemia and transfusion dependent rare inherited anaemias attending hospital are invited to have a blood group genotype DNA based test alongside their routine blood test, even if they have had an extended red cell genotype/phenotype before.   

In support of collecting samples for testing please note the following:  

1. Pathology Directors have been working on adding the test request to LIMs and/or other Information Management Systems. 
2. NHSBT have provided the request form (see annex 1) to accompany samples. All details on sampling are listed on the request form. Please ensure all samples are sent with a fully completed form – including the NHS number (patients in England) and the consent box for testing. If this has not been completed samples will not be tested.  
3. Materials are available on the NHS Blood and Transplant website, including a set of Frequently Asked Questions for hospital and lab staff and patients and a patient information leaflet. 
4. Tests should be offered to all eligible patients identified, outlining the benefit, invite them for testing as part of routine appointments, discuss and note consent on the request form. 
5. Once NHSBT testing commences, the test uses high throughput batches and a longer initial turnaround time for results is anticipated, especially as we expect to operate a two-stage process: starting with DNA extraction.  Genotyping using with the new assay, will commence following approval from the MHRA. We will communicate to hospitals when the second-stage starts. 
6. Results will be made available for referring clinical teams via Sunquest’s Integrated Clinical Environment (ICE) web-based system (Sp-ICE)  within 1 hour of release.
7. It is anticipated that local clinicians will inform patients of results and take clinical actions when required (for example in the event an updated blood group genotyping profile becoming apparent via the programme that may influence choice of blood for transfusion). 

Sickle cell disorder and thalassaemia are both inherited blood disorders where people are often treated with blood transfusions.

In sickle cell disorder, the red blood cells are often damaged and can then become stuck in blood vessels, causing pain and damaging organs. This can cause life-threatening complications such as stroke and severe breathing difficulties.

In thalassaemia, people cannot produce enough haemoglobin, causing severe anaemia, which can be fatal if not treated with blood transfusions.

Rare inherited anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA), and disorders of red cell membrane and enzymes, such as hereditary spherocytosis and pyruvate kinase deficiency. These can be severe conditions and sometimes people need regular blood transfusions. 
 

We are only offering testing in these disorders if patients need regular blood transfusions – are ‘transfusion dependent’. There are about 200 patients in England who fit these criteria.    

Although anyone can have these conditions, sickle cell disorder is more common in people of Black African or Caribbean heritage and thalassaemia is more common in people of Mediterranean, South Asian, Southeast Asian or Middle Eastern heritage. Sickle cell disorder affects about 17,000 patients in England with 250 new cases per year, and there are approximately 800 people with severe thalassemia, with about 50 new cases per year.

Red blood cells have labels on their surfaces, known as antigens or blood groups.  
 
We inherit our blood groups from our parents and different people have different blood groups.  

There are over 300 different blood groups, although the most important/well known ones are A, B and O, and RhD positive and RhD negative. We call these the basic blood groups.  
 
Blood is selected for transfusion - so the blood groups of the donor match those of the patient receiving the blood as closely as possible. This is known as blood matching. 

Before a person receives a transfusion, they have a test in the hospital to check their basic blood groups. When the blood laboratory team choose blood for patients, they check that the blood group of the donors matches the basic blood groups.

No. There are over 300 blood groups. Hospitals will match for the most important or well known blood groups. The most important ones are A, B, O and RhD positive and RhD negative. For people with sickle cell disorder, thalassaemia or some rare inherited anaemias, they will match for more blood groups, usually C, c, E, e and K.

However, we cannot routinely match for all of the 300 blood groups – known as the extended blood groups.  A major reason for this is to do with our current technology. 

As we don’t match for all the blood groups, transfused blood may contain blood groups that the patient does not have. Most of the time, the patients’ immune systems ignores this, but sometimes the immune system recognises the difference and makes an antibody against the blood group. This is known as a blood group antibody formation or alloimmunisation. 

Having blood group antibodies means that it is harder to match blood and in some cases there is a delay in finding the blood for the patient. For some patients, blood can be found, but not enough blood.

As there are over 300 different blood groups we routinely select the most important blood groups to match, some of these are well known such as A,B,O. We also match for some additional blood groups for people with sickle cell and thalassaemia. But we do not match for all of them.

Having blood group antibodies means that it is harder to match blood and in some cases there is a delay in finding the blood for the patient. For some patients, blood can be found, but not enough. This means that patients can be under treated for their health conditions. 

We mostly do this using serology - by using commercially made antibodies to different blood groups in patients and donors. This is both time-consuming and expensive and we do not have the antibodies nor resources to test all the different blood groups of patients and donors.

As blood groups are determined by people’s genes, we can test for them with genetic testing. We do have some genetic testing available to patients (not donors) but this also does not test every blood group, is relatively slow, and not in routine use.  

In 2014, a national audit undertaken by NHSBT showed that the extended blood groups were only known in 50% of patients with sickle cell disorder. This makes it harder to identify antibodies if they form them and also harder to find better matched units for transfusion.

If more patients and donors are tested for extended blood groups, it will be possible to ensure that transfused blood is more closely matched for the recipient, which will help stop antibodies forming. It will also make it easier to find compatible blood for people who already have antibodies.

This has already been shown to work in the Netherlands, where they have used this technology, to find matched blood for patients who previously could not have transfusions.

This technique also tests for different antigen types (called human leucocyte antigen - HLA), which may help people who need a bone marrow transplant find a matched donor.

Alongside the genetic blood grouping, the sample will be tested for human leucocyte antigens (HLA) as people may be eligible for stem cell / bone marrow transplant / gene therapy treatment or clinical trials.

The first step would be to see if their sibling is a match. Siblings will be tested by the normal routes and the tests offered on patients as part of this programme are screening tests. If they show the possibility of matching more testing will need to take place.

Find more about the sickle cell disorder stem cell transplant programme.

There are BHS policies for  stem cell transplants in adults with sickle cell disease and thalassaemia

For several years we have been able to test blood groups using genetics or DNA – known as blood group genotyping.

NHSBT, working with an international group of scientists and industry, has developed a more advanced method of blood group genotyping.

This newer blood group genotyping test can test for more blood groups than previous tests.

This may make it possible to test more patients and for the first time, blood donors.

Testing for bone marrow type (human leucocyte antigen - HLA) will also be offered as part of this programme.

Using donor and recipient blood group genotyping data to support matching for extended blood groups will, in the future, enable NHS Blood and Transplant to provide the best possible blood for patients, reducing the risk of preventable complications.

For patients without antibodies it should be possible to identify better matched blood for transfusion and so reduce antibody formation. For those that already have antibodies it should be easier and quicker to find blood for transfusion.

By also testing HLA types, people who are potentially eligible for stem cell/bone marrow transplant/gene therapy will have taken the first step to see if they have a related HLA matched donor.      

Yes. The patient or donor only requires a simple blood test, and they do not come into contact with the new machine.

The programme will use array genotyping on the Axiom Total Blood Typing Solution Test on the GENE-TITAN platform, developed by the Blood transfusion Genomics Consortium. The Blood transfusion Genomics Consortium, of which NHSBT is a member, includes other blood services internationally Australia, Canada, the New York and the Netherlands and industry partner, Thermofisher. 

NHS England is funding NHS Blood and Transplant to provide the testing for patients in England free of charge to hospitals until a date to be confirmed. Following that, it should be expected that hospital trusts will be charged for the testing.

This blood group genotyping test can be offered to all current patients with sickle cell, thalassaemia and transfusion dependent rare inherited anaemias free of charge to hospitals in England through the NHS within the 12-month programme.

For patients not tested in year one, we expect to offer the blood group genotyping test to these patients and new patients (circa 300 new-borns and importations) in future years. 

This programme is being delivered with the support of NHS England by NHSBT.

The testing in this first phase is being offered to people with sickle cell disorder, thalassaemia and transfusion dependent rare inherited anaemias for extended blood group testing and HLA testing only. Those with rare inherited anaemias will need to be transfusion-dependent to be eligible.

This is not for people who are carriers (trait) for sickle cell or thalassaemia. In the initial phase, whilst NHSE is paying for the testing, only patients in England with an NHS number will be eligible for this test. As Scotland, Wales and Northern Ireland set up their pathways and processes, testing will be offered to patients in those countries.

Staff and patients in these countries should await communication from their respective blood services prior to starting sample collection. 

This programme complements a separate, existing programme in NHSBT to genotype a number of blood donors. Using donor and recipient genotyping data to support matching for extended blood groups will enable the NHS to provide the best possible blood for patients, reducing the risk of alloimmunisation and preventable complications. 

NHS Blood and Transplant aims to genotype 80,000 carefully selected donors in 2024 with an ongoing ambition to genotype more donors in the future.

There is also a partnership with Our Future Health that will support donor genotyping. 

No, this is not research. This is going to be offered as standard care, starting with the patients most affected by issues around blood matching – that is, people with sickle cell disorder, thalassaemia and those with transfusion dependent rare inherited anaemias.

Research may well be ongoing in your hospital as it is within the wider NHS. However, this blood group genotyping programme is not a research study, this is an improvement in clinical care, and it will be delivered by regular staff in your clinics, wards and laboratories working with NHSBT.

Research is vital in providing the evidence we need to transform services and improve outcomes, and this is particularly important for people with sickle cell disorder thalassaemia and rare anaemias. A lot of health research is carried out in the NHS, with recruitment and follow-up often taking place in clinical settings. 

You can find out more about research on the NHS England website.

Research may well be ongoing in the your hospital as it does frequently in the NHS. However, this is not a research study, this is an improvement in clinical care, and it will be delivered by regular staff in your clinics, wards and laboratories working with the national blood service for England known as NHS Blood and Transplant.

Research is vital in providing the evidence we need to transform services and improve outcomes, and this is particularly important for people with sickle cell, thalassaemia and rare anaemias, where historically little research has been done.

By fully integrating research into our organisation we can outperform organisations that do not, leading to better quality care and improved use of resources. A lot of health research is carried out in the NHS, with recruitment and follow-up often taking place in clinical settings.

You can find out more about research on the NHS England website.

The programme will be run within the NHSBT Genomics Programme governance structure.

An overarching programme steering group chaired by NHSE has been established which includes representatives from NHSE and NHSBT as well as professional bodies, stakeholders and Patient and Public Voice (PPV) representatives to provide direction to the programme development, oversight and review of progress. It reports into the NHS Medical Directorate and the NHS England National Healthcare Inequalities Improvement Board, as well as to the defined NHSBT governance structures.

The start date for patients with sickle cell, thalassaemia and transfusion dependent rare inherited anaemias, in England, and with an NHS number is 22 January 2024. For patients in Scotland, Wales and Northern Island, patients and staff should wait for communications from the respective blood services as to commencement of sampling.  

This test will be been made available to those living in Northern Ireland, Scotland and Wales, through the health services of those countries. Systems are being put in place and sampling in those countries will start in due course. Staff and patients in those countries should await communication from their respective blood service before the start of sampling.

transfusion@nhsbt.nhs.uk

The testing is a simple blood test using DNA taken from the blood sample.

The sample will go to the local transfusion laboratory, who will send it to NHS Blood and Transplant for testing. The patient does not need to be fasting and can be taken at any time. We hope that eligible patients are offered this testing when they are having other blood tests e.g. when they come for an annual review or are admitted to hospital or seen in clinic.

The test will be explained and the patient asked for consent. The sample form will include a tick box on consent which must be completed - the sample will not be processed without this box being ticked.

A patient information leaflet alongside all other relevant information can be found on the genotyping programme homepage.

The sample requirements are exactly the same as for any blood grouping sample or transfusion specimen sent to NHS Blood and Transplant, except the NHS number will be a mandatory field for patients in England (and subsequently Wales, with H&C number in Northern Ireland and CHI number in Scotland when testing commences there).

Full details are on the test request form. 

Full sample requirements will be provided on the forms and on the International Blood Group Reference Laboratory website.

Although the genetic testing does not require large amounts of blood, we want to make sure that for complex cases we have enough blood to do all the necessary testing.  

The samples will require: 

• 6mls EDTA for Adults/Adolescents 
• 2mls EDTA for Paediatric  
• 1-2ml EDTA for Under 6 months 

Please only send one bottle per patient. 

Labels pre-printed prior to phlebotomy e.g. Addressograph labels are not acceptable
on samples. They are, however, acceptable on request forms providing they do not
obscure other vital details.

Samples must have handwritten labels unless demand printed labels are produced at the time of phlebotomy.

NHS Blood and Transplant must be informed in writing if demand printed labels are in use.

Testing will be performed in NHSBT laboratories, initially in Bristol.

NHS Blood and Transplant has developed a new form for this test. The form is available as an editable PDF on the IBGRL website.

Please note, the form must be downloaded and not completed in your web browser.

Unlike previous NHSBT forms this will not be provided as a paper form but can be printed. 

Your hospital can explore creating their own form from their electronic ordering system. It will need to contain all the same information as the NHSBT form, laid out in the same way, but can be printed in black and white. It will need to accompany the sample.

We suggest that you make the mandatory fields electronically mandatory to decrease the chance of sample rejection.

Please discuss with us before making and using such a form, as it will need to be done in agreement with NHSBT.

Genetic testing of any sort requires consent. Clinical staff (including nurses and other clinical staff) must obtain verbal consent and document this via a tick box on the sample form. The sample will not be processed without this box being ticked.

Note that even though consent is verbal the Human Tissue Act states that there should be a record of this consent being taken (see back of request form for more information).

Using established pathways to deliver blood components and/or samples, hospitals will send the samples to their local NHSBT laboratory who will forward them to NHSBT’s specialist Molecular Diagnostics laboratories in Bristol. 

NHS Genomic Laboratory Hubs (GLHs) are not involved in this programme. All extended blood grouping in England, serological and genetic, is performed by NHSBT.

The NHS GLHs will continue to provide the specialist testing to make the diagnosis of these conditions for example for Sickle cell disorder, thalassaemia and rare inherited anaemias.   

Local hospital transfusion laboratories will receive sample and send via routine NHSBT sample transport to their local NHSBT centre.

NHSBT will transport samlpes to Filton where they will be tested and if additional testing is required the IBGRL will undertake extended testing.

MHRA approval is underway and testing on the array will start when this is in place, prior to that NHS Blood and Transplant will be preparing the samples for testing. It is therefore important that if you require a result on these tests in early 2024, that you send a sample in parallel using existing blood grouping tests provided by NHSBT. There will be an announcement from NHSE when approval is obtained.

Following MHRA approval, turnaround time will be dependent on the number of samples being received. Once the process is established and sufficient samples are being received NHSBT will aim for a four week turn-around-time, if possible, for samples that do not require extended testing. If the test is urgent, existing pathways for extended blood group testing should be used. The results will be on SpPICE and they will look just like the existing genotyping results.

The existing blood grouping tests at NHS Blood and Transplant will still be available and should be used where results are needed quickly. 

We do not anticipate we will be using this new technology for emergency testing.

Further details are available on the IBGRL website.

These will continue to incur a cost to the hospital.

We do not anticipate we will be using this new technology for emergency testing.

Please see emergency testing information.

This will continue to be performed using the standard methods and a request must be made directly to NHSBT for this to be urgently undertaken if that is clinically indicated. This test will continue to incur a cost to the hospital.

Results will be available in the normal manner and will be presented/displayed in a similar way to other NHS Blood and Transplant results for extended blood group and HLA testing on SpiCE.

The blood services in Scotland, Wales and Northern Ireland have a different mechanism of sharing results.

Hospitals already have processes on how to display NHSBT on internal laboratory information management systems.

Hospital and clinical laboratory teams will not need to interpret raw genetic data.

Any queries regarding results should be directed to NHSBT.

Through your normal routes where results are accessed.

The results will be available on SpICE for hospitals in England. The blood services in Scotland, Wales and Northern Ireland have a different mechanism of sharing results. E-mail reports will not normally be available.

Clinical teams should share the results of the testing with the patients as appropriate.

It is essential that patient information is kept safe and secure. Results from this test will be treated in the same way as all samples sent to NHSBT; that is, blood samples tested by NHSBT are routinely available to the hospital that has sent your sample and can be viewed by other hospitals that the patient attends, so as to ensure the safety of any blood transfusion that they might have.

The genetic test will be limited to red cell antigens, and human leucocyte antigen only.

Send a sample again for this new test.

This test is for all the patients with sickle cell, thalassaemia and rare inherited anaemias regardless of whether they have had extended red cell antigen typing before. This panel is more extensive and includes HLA.

Please send samples for all eligible patients.

The haemoglobinopathy networks should discuss local strategy to ensure all of the eligible patients are offered the test. It may be done at local or specialist centres – and will often make sense to test when the patient is having blood tests.

As soon as a sample is received at NHS Blood and Transplant, it will appear on SpICE (the web based NHSBT interface that can be accessed by transfusion laboratory staff).

Duplicate samples will not be tested

This method has been extensively validated on more than 13,000 samples by the International Blood Transfusion Genomics Consortium. The assay is pending approval for exceptional use authorisation by the MHRA. The assay is not currently CE marked.

This test is for all the patients with sickle cell, thalassaemia and rare inherited anaemias regardless of whether they have had extended red cell antigen typing before. This panel is more extensive and includes HLA. Please send samples for all eligible patients.

Given that this a new test we may find discrepancies with previous results or, as with all genetic testing, there may be a need for further analysis to resolve some of the genotypes. These issues will be resolved for each patient according to NHSBT internal processes prior to results being released.

The test also looks at another type of blood cell, namely platelets, and can be used to tell us a patient’s or donor’s platelet (HPA) type.

For this programme we will not be analysing this data and will not report any platelet results or add them to the patient record.

The genetic information about platelet types will be stored securely and will not be accessed unless we ask and receive permission (consent) in the future.