Scientists have discovered a new blood group system that has shed light on a 50-year-old medical mystery beginning in 1972, when a pregnant woman was found to lack a surface molecule of all other known red blood cells. The breakthrough by UK and Israel researchers now means the MAL blood group system can be classified: hopefully, one day, significantly improving care for patients with rare blood types.
Louise Tilley, a UK’s National Health Service (NHS) hematologist, has been working on this project nearly two decades. “This is a enormous accomplishment and the result of a long team effort. It allows us to treat rare, but very important, patients in better ways,” she said.
The most common is the ABO blood group system followed by the Rhesus factor, but there are many more based on the proteins and sugars that cover the surface of red blood cells. The molecules are known as antigens, which distinguish the body’s own cells from foreign invaders. When a transfusion of unmatched blood with regards to antigens is made, the reaction it causes might be very severe and even life-threatening.
Most of the significant blood groups were first found in the early 20th century, whereas a few of them, like the newly discovered Er blood system, which was identified in 2022, are newly announced and affects only a small number of people. The same is true for the newly classified MAL blood group.
In the 1972 case, she had blood missing the AnWj antigen-a protein characteristic carried by more than 99.9% of people. Her antigen is linked to myelin and lymphocyte-associated protein MAL. People who inherit mutations in both copies of their MAL genes lose this antigen and make up the extremely rare AnWj-negative blood type.
After conducting research for almost 20 years, the team was able to identify three patients suffering from this rare blood type. They inserted the normal MAL gene into AnWj-negative cells and saw the reappearance of the missing antigen in order to confirm their discovery.
This discovery enables the physicians to establish if the absence of the MAL antigen was indeed due to mutations acquired from either parent or if simply a function of a disease in the blood. Such rare blood idiosyncrasies are crucial for knowledge due to their ability to bring life-altering changes to patients, especially at the point of transfusions.
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