Since 1972, scientists have been trying to solve the mystery of a mysterious lack of a certain molecule on the surface of a pregnant woman's red blood cells. After 50 years of intensive research, scientists from the UK and Israel have finally managed to describe a new blood group system in humans.
This is a huge accomplishment, the culmination of a long-term team effort to finally establish this new blood group system and provide the best care for rare but important patients. While most of us are more familiar with the ABO and Rh (positive or negative) blood group systems, people actually have many different blood group systems, based on the variety of proteins and sugars that coat the surface of our blood cells.
Our bodies use these antigenic molecules, among other things, as identification markers to distinguish "self" from potentially harmful "non-self." If these markers don't match during a blood transfusion, this life-saving tactic can trigger reactions and even prove fatal.
Most of the major blood groups were identified in the early 20th century. Many discovered since then, such as the Er blood system first described by researchers in 2022, apply to only a small number of people. This is also the case with the new blood group. The work has been difficult because genetic cases are so rare.
Previous studies have shown that more than 99.9% of people have the AnWj antigen, which was missing from the patient's blood in 1972. This antigen is found on a protein in myelin and lymphocytes, prompting researchers to call the newly described system the MAL blood group.
When someone has a mutated version of both copies of their MAL genes, they end up with the AnWj-negative blood type, like the pregnant patient. Tilley and her team identified three patients with the rare blood type who did not have the mutation, suggesting that sometimes blood disorders can also suppress this antigen.
MAL is a very small protein with some interesting properties, which made it difficult to identify and required us to pursue multiple lines of research to gather the evidence we needed to establish this blood group system. To establish that they had the right gene, after decades of research, the team introduced the normal MAL gene into blood cells that were AnWj negative. This effectively delivered the AnWj antigen to these cells.
MAL protein is known to play a key role in maintaining cell membrane stability and facilitating cellular transport. Furthermore, previous studies have shown that AnWj is not present in neonates but appears shortly after birth.
Interestingly, all the AnWj-negative patients in the study had the same mutation. However, no other abnormalities or cellular diseases associated with the mutation were found. Now that scientists have identified the genetic markers behind the MAL mutation, patients can be tested to see whether their MAL-negative blood type is hereditary or due to suppression, which could be a sign of another medical problem.
These rare blood oddities can have devastating consequences for patients, so the more we understand about them, the more lives can be saved. The research was published in the journal Blood.
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