News
Blood group genotyping now available for patients in England
25th Sep 2024
Patients in England with sickle cell disorder and thalassaemia can now access the new blood group genotyping test, developed by the Blood transfusion Genomics Consortium. The test will be used by the National Health Service in England for a blood group genotyping programme.
Although there are already blood group genotyping techniques in use for patients, this particular test is revolutionary, in the way that it can test for red cell, platelet, HLA (tissue types) and neutrophil groups, and has been designed to identify some of the rarer blood groups seen in Black people.
The machine can test 3,000 samples per week, meaning that it can be deployed at scale in the blood donor population. This is particularly important for those with sickle cell disorder and thalassaemia, who often need blood transfusions and often have these rare blood groups.
The UK is the first country where patients can access the new genomic blood test, following extensive review from the national regulator, which has deemed the test safe and effective for this use. The authorisation is subject to monitoring via a monthly summary report providing details of any adverse incidents whilst in use.
As a similar project in the donor population rolls out, patients who have the test may benefit from better matching blood transfusions in the future, increasing the clinical effectiveness of the transfusion and reducing the risk of side effects.
NHS England (NHSE) has provided initial programme funding for the genomic test to be performed for patients with sickle cell disorder, thalassaemia, and people with transfusion dependent rare inherited anaemias.
Thanks to the support of NHSE, the test is currently available for these patients in England as part of their normal clinical carepath. Blood samples are sent to the NHSBT centre in Bristol for testing.
Blood transfusions are commonly used to treat rare inherited blood disorders, and it is common practice that blood is matched for the four main blood types (A, B, O, and AB) and for the groups of the RH system, and for the K group.
There are, however, many other groups for which blood is not routinely matched. As a consequence, patients who receive transfusions can form antibodies against blood groups for which matching is currently not routine. These antibodies can cause severe, and even life-threatening, reactions to future transfusions.
Patients with antibodies may experience delays to treatment due to the difficulty in finding enough units of suitably matched blood.
The new test covers 56 blood group types, in addition to tissue, or HLA, types. The information about the HLA types allows doctors to explore whether their patients are eligible for offering a curative treatment, either by stem cell transplantation or gene therapy.
To help patients and clinicians understand the benefits of the new test, we have produced a short educational film following two patients as they meet the scientists and doctors responsible for its development. You can see the trailer here
and watch the full film here: Blood Group Genotyping: The DNA Revolution for Transfusion Care.Vel negative discovered to be first blood type linked to phenotype
22nd June 2024
The Vel negative blood type has been discovered to be the first blood group linked strongly to phenotype.
Research led by Dr. Mattia Frontini and co-authored by several BGC members discovered that people who are negative for the blood group Vel are genetically predisposed to be overweight.
The findings show that having the gene variant that underlies being negative for the Vel group also has an impact on weight, equating to an average extra 4.6 kg in females and 2.4 kg in males. The researchers also observed other characteristics linked to obesity, including mildly increased levels of fat and liver enzymes in the blood, as well as lower levels of thyroid hormones.
The Vel negative blood type can be determined by the Axiom™ BloodGenomiX blood group genotyping array, developed by the BGC. The Vel blood group is linked to the SMIM1 gene and people who are Vel negative have inherited a specific loss of function variant in the SMIM1 gene from both parents. In the UK about 1 in 5000 people have the Vel negative blood type, in Scandinavia up to 1 in 1000 people lack Vel but being Vel negative is never observed in Black people.
To make the discovery, the research team used the Axiom™ array genotyping results of the 500,000 participants in the UK Biobank cohort, identifying 104 people with the variant that leads to loss of function in the SMIM1 gene. The team also used the NIHR National BioResource to obtain fresh blood samples from both Vel negative and positive individuals to use in the research.
Prior to this research, protein SMIM1 was known only as the protein underlying the Vel blood group, with no other known function.
Speaking of the research, lead author Dr. Mattia Frontini, Associate Professor of Cell Biology at the University of Exeter Medical School, said “Obesity rates have nearly tripled in the past 50 years, and by 2030, more than one billion individuals worldwide are projected to be obese. The associated diseases and complications create a significant economic burden on healthcare systems. Obesity is due to an imbalance between energy intake and expenditure, often a complex interplay of lifestyle, environmental, and genetic factors. In a small minority of people, obesity is caused by genetic variants. When this is the case, new treatments can sometimes be found to benefit these people – and we’re now hoping to run a clinical trial to find out whether a widely-available drug for thyroid supplementation may be beneficial in treating obesity in people negative for the Vel blood group because of lacking a functioning SMIM1 gene.”
This work was funded by the National Institute for Health and Care Research, British Heart Foundation, and NHS Blood and Transplant. The collaboration included partners at the University of Cambridge, the Sanger Institute, the Copenhagen University in Denmark, and the Lund University in Sweden.
The paper is entitled ‘SMIM1 absence is associated with reduced energy expenditure and excess weight’, and is published in Med: Stefanucci et al., SMIM1 absence is associated with reduced energy expenditure and excess weight, Med (2024), https://doi.org/10.1016/j.medj.2024.05.015
Dr. Colin Brown recieves NHSBT Lifetime Acheivement Award
19th Feb 2024
The BGC is proud to announce that Dr. Colin Brown has been awarded NHS Blood and Transplant’s Lifetime Achievement Award earlier his year. Colin is Consultant Clinical Scientist and leader of the Histocompatibility & Immunogenetics laboratory at NHSBT Colindale, as well as playing a pivotal role in the BGC, overseeing the genotyping of approximately 70,000 DNA samples from NHSBT blood donors.
Colin’s award recognises his extensive contributions to improving care for blood donors and patients, including the publication of over 75 research papers, with many presenting trailblazing evidence on approaches to improve care for patients from ethnic minorities.
Colin’s lab at NHSBT Colindale was the first in Europe to introduce next generation sequencing. Under Colin’s leadership, the lab led NHSBT’s development of the new genomic blood typing array, which will be used to genotype sickle cell and thalassaemia patients and enable better matching of blood.
The BGC and all our members would like to congratulate Colin on this well-deserved award.
