50-Years Old Medical Mystery Solved: Scientists at NHS Blood and Transplant (NHSBT) and the University of Bristol have made an astounding discovery by unveiling the genetic basis of any blood group, ending a 50-year-old medical mystery and significantly impacting transfusion safety. Their groundbreaking discovery also established the MAL blood group system as the 47th blood type ever discovered - making MAL systems one of the first steps on a journey towards discovering all 47 blood groups ever discovered!
What is the AnWj Blood Group?
AnWj blood group antigen was first identified in 1972; however, its genetic background remained a mystery for decades. Antigens are markers on red blood cells used by immune systems to distinguish between different blood types; most people are familiar with ABO and Rh blood group systems, but there are many others with their own set of antigens.
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AnWj is one of several rare antigens. Over 99.9% of individuals possessing AnWj antigen are considered positive; however, some individuals can be anWj-negative, which presents challenges in medical situations that require blood transfusions. If such individuals receive blood from donors who possess AnWj antigen and receive transfused blood from an AnWj-positive donor, their body could react adversely, causing potentially life-threatening transfusion reactions that must be carefully managed or even avoided to stay alive.
Discovery of MAL Blood Group System
Discovering the genetic foundation of AnWj required a joint effort between NHSBT's International Blood Group Reference Laboratory (IBGRL), University of Bristol researchers, and international scholars from around the globe. Together, they determined that its antigen, AnWj, was carried by Mal protein; hence, their discovery has resulted in the establishment of the MAL blood group system, which honours this discovery.
Researchers used advanced genetic techniques such as whole exome sequencing - an examination of all of the DNA that encodes proteins - to discover that those with rare AnWj-negative blood types had homozygous deletions of the MAL gene, meaning they lacked production of Mal protein; without this gene, they don't carry AnWj antigen on red blood cells and cannot produce antigen for this blood type.
Rare Inherited Cases and their Medical Implications
People may become AnWj-negative as a result of certain illnesses, such as haematological disorders or cancer; however, its inheritance is highly uncommon; only a handful of genetically AnWj-negative people have ever been identified; this study involved five such people, including an Arab-Israeli family and one person first identified with AnWj-negative blood in the 1970s.
With this discovery, genetic testing can quickly identify other anWj-negative individuals more efficiently. This has profound ramifications for blood transfusions, as new genotyping tests can be designed to screen for this rare blood group and reduce risks during transfusion procedures.
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Discovering MAL as the source of AnWj was a complex task for researchers; they faced significant hurdles in proving its link to AnWj antigen production, according to Louise Tilley of NHS Blood and Transplant. According to Louise Tilley's estimations, its genetic basis had remained a mystery for over 50 years, necessitating almost two decades of dedicated research effort before becoming apparent.
Tilley noted the difficulty in her work due to its sporadic nature and revealed how they would have only found it with exome sequencing, with no precise candidate gene identified or known information regarding Mal protein in red cells. Proving our findings proved challenging, but this feat would never have been achieved without the help and assistance of all collaborators and patients who contributed.
Nicole Thornton, Head of IBGRL Red Cell Reference at NHS Blood and Transplant, expressed this sentiment by emphasizing how challenging and rewarding resolving the genetic basis of AnWj has been. “Proving that genes encode blood group antigens takes hard work, but we love making discoveries for rare patients worldwide!”
Genotyping and Future Treatment Options
MAL blood group system holds immediate practical applications. Genotyping tests will now be able to screen for individuals without AnWj antigen, identify rare donors and patients more efficiently, and provide safer transfusions for those lacking it.
Dr Tim Satchwell, Senior Lecturer at UWE Bristol and contributor to this research study commented on how Mal's complex makeup made its discovery more challenging. Due to this property, it didn't prove easy to detect. "Mal is an uncommon minimal protein with unique properties which made identification challenging - thus necessitating numerous lines of investigation to establish this blood group system," Satchwell remarked.
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This research marks a significant advance in understanding blood and transfusion science. Professor Ash Toye, Director of the University of Bristol's Blood and Transplant Research Unit, said, “This development will allow us to identify rare donors and aid patients.”
Conclusion
The breakthrough of the MAL blood group system discovery marks a remarkable accomplishment in medical science. Scientists' discovery of the genetic basis for an antigen opens doors for safer transfusions and better treatments for rare patients; its success is a testament to modern genetic research's potential and international collaboration in solving long-standing medical puzzles. For more updates, continue reading at Education Post News.
