When a pregnant woman took a blood sample back in 1972, doctors discovered that it was surprisingly lacking in a surface molecule found on some red blood cells at the time .
After 50 years, this mysterious molecular absence finally led researchers in the UK and Israel to describe a new blood type system in humans.
“It represents a great achievement, and the culmination of a long team effort, to finally create this new blood group system and to be able to provide the best care to patients who are rare, but important,” UK National Health Service hematologist Louise Tilley says, after nearly 20 years of first-hand research into this bleeding quirk.
Although we are all familiar with the ABO blood group system and the rhesus factor (which is a mixed or weak component), people have many different blood group systems based on a variety of surface proteins. ‘of the cells and sugars that cover our blood. cells.
Our body uses these antigen molecules, among other purposes, as self-identification signals to distinguish itself from non-humans that may be harmful.
If these symptoms do not match when a person receives a blood transfusion, this life-saving procedure can cause emotional or even fatal complications.
Many major blood groups were identified in the early 20th century. Many have been discovered since, like the Er blood system first described by researchers in 2022, it affects only a small number of people. This is true for the new blood group.
“The work was difficult because the genes are so rare,” says Tilley.
Previous research has found that more than 99.9 percent of people have the AnWj antigen that was not present in the patient’s blood in 1972. This antigen lives on myelin protein and lymphocytes, leading the researchers to call the newly described system group of MAL blood.
When a person has a mutated version of two copies of their MAL gene, they end up with an AnWj-negative blood type, just like a pregnant patient. Tilley and team identified three patients with the rare blood type who did not have this mutation, suggesting that blood disorders can sometimes cause the antigen to be suppressed.
“MAL is a very small protein with some interesting features that made it difficult to identify and say that we needed to pursue a lot of research to gather the evidence we needed to create this classification system of blood,” explains a cell biologist at the University of the West of England. Tim Satchwell.
To find out if they had the right gene, after decades of research, the team inserted the normal MAL gene into blood cells that were AnWj-negative. This effectively delivered the AnWj antigen to those cells.
The MAL protein is known to play an important role in keeping cell membranes stable and helping to move cells. Furthermore, previous studies have found that AnWj is not necessarily present in newborns but appears soon after birth.
Interestingly, all AnWj-negative patients included in the study shared the same mutation. However, no other abnormal cells or diseases have been found to be associated with this mutation.
Now that researchers have identified genetic markers behind MAL mutations, patients can be screened to see if their negative MAL blood type is inherited or due to stress, which may be a sign of another underlying medical problem.
These abnormal blood signs can have dire consequences for patients, so the more we understand, the more lives can be saved.
This research was published in Blood.
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