A New Blood Group Uncovered After Half a Century of Mystery

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Imagine a blood type so rare it baffled scientists for decades. Back in 1972, doctors noticed a pregnant woman lacked a surface molecule—present in virtually everyone else. That mystery remained unsolved for 50 years until now. In 2024, researchers from the UK and Israel finally identified the genetic reason behind this anomaly and officially classified it as a new blood group system. The findings were recently shared by ScienceAlert in an in‑depth feature (ScienceAlert).

Red Blood Cells moving through a vessel
Image credits: blood.co.uk

What Did Researchers Discover?

  • The missing molecule was the AnWj antigen, known to virtually all red blood cells. Only extremely rare individuals lack it.

  • Scientists uncovered that mutations in the MAL gene prevent production of the Mal protein that carries the AnWj antigen.

  • Without Mal, the antigen is absent—and individuals become AnWj‑negative, defining what’s now known as the MAL blood group system (the 47th named blood group system) (University of Bristol).

Why It Matters

  • AnWj‑negative individuals are at high risk if given normal blood since their immune systems recognize the antigen as foreign.

Blood type (or blood group) is determined, in part, by the ABO blood group antigens present on red blood cells. Antibodies in our blood plasma detect when a foreign antigen marker is present. (InvictaHOG/Public Domain/Wikimedia Commons)

  • This discovery allows labs to screen donors and patients more accurately, making transfusions safer for those rare individuals (WIRED).

  • It opens doors to understanding similar antigen‑deficient cases in future research.

How They Broke the Case

  • Whole exome sequencing identified the shared deletion within the MAL gene among genetically AnWj‑negative individuals.

  • Laboratory experiments reintroduced the MAL gene into blood cells without it—and successfully restored the AnWj antigen on the cell surface, proving causation (WIRED, University of Bristol).

  • The work progressed despite early missteps. In one case, a competing study blamed a different gene. Ultimately, collaboration helped affirm MAL as the true cause (WIRED).

What’s Next?

  • Now that the genetic basis is clear, broader genetic and blood testing can identify AnWj‑negative donors and patients.

  • Even though these blood types are ultra‑rare, knowing they exist can literally save lives during critical transfusions.

  • Researchers expect more rare blood groups to be identified. In fact, about one new system has emerged per year since 2020 (University of Bristol, WIRED).

Why This Discovery Matters

  • Offers a precise genetic test for identifying AnWj‑negative individuals.

  • Helps matching and screening in blood donation services.

  • Avoids life‑threatening transfusion reactions for affected patients.

  • Advances our understanding of human antigen diversity.

This blood group discovery is a striking example of how patient stories intersect with decades of science to untangle rare conditions—and ultimately save lives.

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