News Release

Detailed blood testing for patients with sickle cell disease and thalassaemia

22 January 2016


Patients with blood disorders can now get detailed blood group typing to enable better matched and potentially safer transfusions.

NHS Blood and Transplant is now offering to genotype blood groups for those patients with haemoglobinopathies, which are disorders including sickle cell disease and thalassaemia that affect the body's ability to make the oxygen carrying molecule haemoglobin.

The typing will detect 'Rh Variant' blood groups, which are slightly different to other blood groups and need to be considered when planning transfusions. Previously, typing to this level would only be possible through reference laboratories using complex genotyping methods. Unlike the older phenotyping methods, NHS Blood and Transplant's new, extended, testing can also be provided for people who have recently received blood.

NHS Blood and Transplant's work will enable the creation of a database of genotyped blood details for patients in England with these disorders.

Extended blood type information, and fast access to the database, will potentially enable safer blood transfusions for patients with haemoglobin disorders, who may need numerous transfusions during their lifetime and who may move between hospitals. A sickle cell patient on a regular transfusion regimen might typically receive around 90 units of a blood a year.

Dr Sara Trompeter, NHS Blood and Transplant Consultant Haematologist, said: "Patients taking part can now potentially receive more finely matched blood if we know not just their blood group, but whether they have a variant Rh type. And there will also be greater safety and likelihood of getting matched blood in an emergency, as their records will be held centrally and can be accessed by blood banks in local hospitals.

"We would urge all patients with haemoglobin disorders such as, sickle cell disease or thalassaemia, to speak to their medical or nursing team about providing a blood sample to NHS Blood and Transplant via their local transfusion laboratories to be genotyped."

Blood transfusions can result in red cell antibody formation - alloimmunisation - resulting in a patient developing an antibody to a blood group they don't have naturally, usually in response to a blood transfusion. These antibodies can destroy donor blood and make it harder to transfuse the patient in the future. Alloimmunisation can be life threatening and around 25 per cent of people with haemoglobin disorders are affected by it.

Monica Korpal, 37, from Nottingham, has beta thalassaemia major, and needs two units of blood every three weeks. She has needed blood since she was 18 months old and has received hundreds of transfusions.

Monica, a married bank manager, welcomed the genotyping initiative. She said: "Getting the best matched blood every time is vital and it is really hard if you have to wait for a transfusion. The national database is a great idea. I've often worried about travelling and visiting people and other hospitals not having my information."

Before the start of this initiative, only a small number of patients had their blood tested for Rh variant status. Around half of patients might have been tested for their basic blood phenotype, but that information would only have been stored at their local hospital. The initiative will test for a wider array of blood groups, including the most common Rh variant genes.

NHS Blood and Transplant is offering this testing at no extra cost to hospitals as part of the initiative until end of June 2016. More than 2,500 samples have been received so far, and it is hoped that many more samples from the estimated 15,000 people affected by haemoglobin disorders will be submitted before July. The results are processed centrally by NHS Blood and Transplant at the International Blood Group Reference Laboratory in Filton and securely stored. The results will be accessible to the teams who are involved in the future care of these patients.

Further information for patients can be found at www.nhsbt.nhs.uk/extendedbloodgrouptesting

Ends

  • For more information contact Stephen Bailey in the NHS Blood and Transplant Press Office on 0151 268 7017 or via Stephen.bailey@nhsbt.nhs.uk
  • Alternatively contact the press office on 01923 367600 or via pressoffice@nhsbt.nhs.uk
  • For out of hours enquiries please call: 0117 969 2444

Notes to editors

  • NHS Blood and Transplant (NHSBT) is a joint England and Wales Special Health Authority. Its remit includes the provision of a reliable, efficient supply of blood and associated services to the NHS in England and North Wales. It is also the organ and tissue donor organisation for the whole of the UK and is responsible for matching and allocating donated organs and tissues.
  • Antigens are substances on the surface of red blood cells that have the ability to invoke a strong antibody response in individuals lacking the substance.
  • The Rh blood group system is highly complex and there are numerous variant genes which produce altered antigens. By conventional testing (phenotyping) these patients may look like they have the regular antigen so are not given antigen negative blood. However, when they are given the blood with the full antigen they may make antibodies. Some variant RH genes are more common in ethnic minorities that are also affected by haemoglobin disorders.
  • A genotype is an organism's full hereditary information. A phenotype is an organism's actual observed properties. For example a patient might have an 'A positive' blood type - that would be their ABO and RhD phenotype. However their genetic inheritance will contain genes for other blood groups and possibly variant genes - the full set of information would be their genotype.
  • The initiative will routinely test for the RHD and RHCE variants most commonly found in these patient groups. Some of the people previously thought to have autoantibodies may in fact have alloantibodies due to RhD and RhCE variants. It will also test genes for the blood groups: K, k, Kpa, Kpb, Jsa, Jsb, Jka, Jkb, Fya, Fyb, Fy (GATA), M, N, S, s, U, Doa, Dob.
  • Beta thalassaemia major also known as transfusion dependent Thalassaemia is the most common and severe form of the condition. It is thought to affect around 1,000 people in England. In the UK, 8 out of 10 babies born with BTM have parents of Indian, Pakistani or Bangladeshi ancestry. In thalassaemia, haemoglobin production is abnormal, leading to anaemia and a reduced oxygen-carrying capacity. If left untreated, the most serious types of thalassaemia can cause other complications, including organ damage, restricted growth, liver disease, heart failure and death.
  • Sickle cell disease affects between 12,500 and 15,000 people in the UK. Most people affected by sickle cell disease are either of Central and West African or Caribbean descent though there are patients from the Middle East, southern Europe and India. Normal red blood cells are flexible and disc-shaped, but in sickle cell anaemia they can become rigid and shaped like a crescent (or sickle). The abnormal cells are also unable to move around as easily as normal shaped cells and can damage blood vessels, resulting in tissue and organ damage and episodes of severe pain.

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