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New blood type discovered after solving 50-year-old mystery

A blood abnormality detected five decades ago has finally been solved, confirming the discovery of a new blood type.

A blood abnormality detected five decades ago has finally been solved, confirming the discovery of a new blood type.
Pixabay

In 1972, a blood test on a pregnant woman revealed a unique abnormality: the absence of a specific molecular marker found in all known red blood cells at that time.

For decades, this anomaly intrigued scientists, who eventually identified it as a new human blood group system named MAL. Published in September 2024, this discovery marks a significant advancement in hematology, particularly in caring for patients with extremely rare blood types.

The MAL blood group system is determined by the presence or absence of the AnWj antigen, a molecule that coats the surface of red blood cells and is found in over 99.9% of individuals. This antigen is linked to a protein fundamental for cellular stability and transport. However, some individuals are AnWj-negative due to a mutation in both copies of the MAL gene. This discovery arose from studies that successfully inserted the normal MAL gene into AnWj-negative blood cells, resulting in the expression of the AnWj antigen on these cells, thereby confirming their genetic relationship.

50 years of mystery

The identification of the MAL system carries significant medical implications, as incompatible blood transfusions can lead to severe, potentially fatal reactions. Detecting and classifying blood types, such as MAL-negative, enhances safety during medical procedures. Additionally, the absence of the AnWj antigen may be associated with underlying diseases that suppress MAL gene expression, making this finding a valuable tool for more accurate diagnoses.

Although the MAL protein is absent at birth, it emerges shortly thereafter, indicating its elemental role in cellular development. While AnWj-negative individuals generally show no significant abnormalities, the study continues to explore the potential implications of this rarity.

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