Researchers at NHS Blood and Transplant in Bristol, including those from the International Blood Group Reference Laboratory, and the University of Bristol, have solved a 50-year mystery by identifying the genetic cause of the AnWj blood group antigen. This discovery establishes MAL as a new human blood group system and will help identify and protect the exceptionally rare AnWj-negative patients from dangerous transfusion reactions.
Scientists first encountered the AnWj marker in 1972 but were unable to determine its genetic origin. The antigen is present in over 99.9% of people. However, for the small percentage who are AnWj negative, receiving AnWj positive blood can trigger a potentially serious transfusion reaction if they develop antibodies against the AnWj antigen. The lack of the antigen can occur due to underlying hematological disorders, certain cancers, or, more rarely, inherited genetic changes.
The research team used whole exome sequencing to pinpoint the genetic source. This technique analyzes DNA to identify unusual variants shared by affected individuals. The analysis revealed the genetic clue hidden within MAL. This breakthrough provides a new way to identify individuals lacking the AnWj antigen and will improve transfusion safety for this rare population.
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