Breakthrough in AnWj Antigen Discovery: Genetic Background Uncovered After 50 Years
This research, led by NHS Blood and Transplant in collaboration with the University of Bristol, has uncovered the genetic basis of the AnWj antigen, now recognized as the 47th blood group system.
This significant discovery is expected to enhance transfusion safety by reducing the risk of adverse reactions. The findings will improve blood matching procedures, ultimately benefiting patients who require transfusions and addressing long-standing challenges in blood transfusion medicine.
Scientists have achieved a significant breakthrough by identifying a new blood group system, MAL, which resolves a medical mystery that has perplexed researchers for over fifty years.
This discovery sheds light on the previously elusive AnWj antigen, providing valuable insights that could improve care for individuals with rare blood types.
The findings hold great promise for enhancing blood transfusion practices and patient safety by offering better matching procedures. This advancement is crucial for those with uncommon blood types who often face challenges in finding compatible donors.
The research, conducted by a team of experts has been published in Blood a peer-reviewed medical journal from the American Society of Hematology.
This publication marks a pivotal moment in transfusion medicine, paving the way for future studies and improved outcomes for patients in need of blood transfusions.
The discovery not only enriches our understanding of blood group systems but also addresses long-standing challenges in the field.
How was the new blood group discovered?
This intriguing mystery remained unsolved for fifty years, until a dedicated research team from the UK’s NHS Blood and Transplant (NHSBT) joined forces with the University of Bristol to crack the case.
Through their extensive investigation, the researchers identified the AnWj antigen as part of a new blood group system, named MAL, which is now recognized as the 47th known blood group system. This discovery marks a significant milestone in transfusion medicine.
“This represents a huge achievement and the culmination of a long team effort to finally establish this new blood group system and provide the best care for rare, yet important, Patients will benefit significantly from this discovery,” said Louise Tilley Senior Research Scientist at NHSBT, in a press release.
The identification of the MAL blood group system not only deepens our understanding of blood group variations but also promises to enhance transfusion safety and patient outcomes for individuals with rare blood types addressing a critical need in medical practice.
Tilley who has dedicated nearly 20 years to this project emphasized the importance of the discovery, stating that it will enable more accurate identification and treatment for patients with rare blood types.
This advancement is crucial for improving transfusion safety and ensuring that individuals with uncommon blood types receive the best possible care tailored to their unique needs.
How did the AnWj Antigen lead to the MAL blood group ?
The AnWj antigen a surface marker found on red blood cells, was first identified in 1972 but its genetic basis remained largely unknown until now. Over 99.9 percent of the population is AnWj-positive meaning their blood contains this antigen.
However individuals who are AnWj-negative face significant risks if they receive AnWj-positive blood during transfusions highlighting the importance of understanding this antigen.
The absence of the AnWj antigen is often associated with certain illnesses such as cancer and various blood disorders. However the research team discovered that a small number of individuals genetically lack the antigen.
Determining the genetic basis of AnWj has been one of our most challenging projects stated Nicole Thornton, Head of the IBGRL Red Cell Reference at NHSBT.
Proving that a gene encodes a blood group antigen requires extensive work but it is what drives our passion to make discoveries that benefit rare patients around the world.
The team’s findings indicate that the AnWj antigen is associated with the Mal protein. Those who are AnWj-positive express the Mal protein on their red blood cells while individuals with a genetic deletion of the MAL gene do not express this protein, resulting in their AnWj-negative status.
This discovery not only clarifies the genetic background of the AnWj antigen but also paves the way for improved blood transfusion practices and patient care. By understanding the genetic factors at play, medical professionals can ensure safer transfusions and better match blood types ultimately reducing the risks faced by those with rare blood types.
This advancement underscores the importance of continued research in transfusion medicine to enhance patient safety and treatment options.
What was the process behind the discovery?
The research team utilized advanced technology including whole exome sequencing to solve the mystery of the AnWj antigen.
Whole exome sequencing analyzes all DNA that encodes proteins and in this case, it revealed that the rare inherited AnWj-negative cases were linked to homozygous deletions in the MAL gene.
It’s incredibly exciting that we could use our ability to manipulate gene expression in developing blood cells to confirm the identity of the AnWj blood group which has puzzled scientists for half a century,” said Ash Toye Professor of Cell Biology at the University of Bristol.
This development will aid in identifying these rare donors and ultimately benefit patients in the future.Additionally, the breakthrough confirmed that the Mal protein is crucial for maintaining the stability of cell membranes and facilitating cell transport.
Notably, AnWj antigens are not present in newborns but develop shortly after birth. This finding emphasizes the importance of understanding the genetic and biological factors behind blood group systems, as it can significantly improve transfusion practices and patient care, particularly for those with rare blood types who require specialized treatment.
What does this discovery mean for patients & the future of medical care?
The discovery of the MAL blood group system will not only aid in identifying AnWj-negative individuals but also facilitate the development of genotyping tests to detect these rare cases. Such tests will be essential in preventing life-threatening transfusion reactions for patients lacking the AnWj antigen.
“Now, we can design genotyping tests to identify genetically AnWj-negative patients and donors, which can be integrated into existing genotyping platforms,” said Thornton. This advancement is expected to greatly benefit approximately 400 patients worldwide each year who rely on precise blood matching for their survival.
This breakthrough goes beyond being a mere scientific achievement; it has significant real-world implications for medical care. Rare blood types like AnWj-negative which were previously challenging to detect, can now be identified through advanced genetic testing, thereby making blood transfusions safer and more effective for these patients.
Reflecting on the lengthy journey to this discovery, Tilley noted, “The genetic background of AnWj has been a mystery for over 50 years, and I have personally been working to resolve it for nearly 20 years of my career.
The identification of the MAL blood group marks a milestone in medical research with the potential to save thousands of lives globally. The ability to genotype for the AnWj antigen will revolutionize the treatment of rare blood types, ensuring that more patients receive the life-saving transfusions they need without the risk of severe reactions. This transformative discovery underscores the importance of ongoing research in transfusion medicine and its capacity to enhance patient safety and outcomes.