A mysterious case that occurred in 1972 culminated in a significant scientific breakthrough in a recent study. When an unusual blood profile was discovered in a pregnant woman, lacking a surface molecule typically found on all known red blood cells, it sparked a half-century investigation. As a result of studying this anomaly, scientists have finally identified the mysterious profile, which turned out to be a new blood group, according to ScienceAlert.
In September 2024, researchers from the UK and Israel announced the culmination of their scientific work: the identification of a new blood group system named MAL. Dr. Louisa Tilly, a hematologist from the National Health Service in the UK and the lead author of the study published in the journal Blood, emphasized this achievement, calling it a "major milestone" and attributing the discovery to decades of collaboration and meticulous research.
The MAL blood group is characterized by the absence of the AnWj antigen—a protein that is typically found in over 99.9% of people. AnWj is absent in newborns, appearing only shortly after birth. Unlike the widely recognized ABO and Rh systems that classify blood based on primary antigens, MAL and other rare systems affect a small portion of the population. However, these systems are critically important for transfusion medicine. Even a minor mismatch of antigens during blood transfusion can trigger a severe immune reaction, making accurate classification extremely vital.
Advancements in genetic research allowed the team to confirm their findings by introducing the MAL gene into blood cells. This enabled the restoration of the missing antigen and definitively proved the genetic basis of this blood group.
In addition to clinical implications, this research paves the way for genetic testing to determine whether the AnWj-negative type arises from hereditary mutations or external suppression, the authors stated. Such differentiation is crucial for identifying potential diseases related to blood disorders.
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