When a pregnant woman took her blood in 1972, doctors discovered that there was a mysteriously lacking surface molecule found on all other known red blood cells at the time.
After 50 years, this strange molecular absence finally led to researchers from the United Kingdom and Israel, describing a new blood group system in humans. In 2024, the team published its discovery document.
“This is a huge achievement and the culmination of the team’s long efforts to finally establish this new blood group system and be able to offer the best care for rare but important, patients,” said the Hematologist of the United Kingdom National Health Service last September, after almost 20 years of personal study.
Although we are all more familiar with the ABO and Rh factor blood system (this is the plus or minus part), people actually have many different blood group systems based on the wide variety of proteins and sugars on the cell surface that cover our blood cells.
Our bodies use these antigenic molecules, among their other goals, such as identification markers, to separate themselves “themselves” from potentially harmful non-rural.
If these markers do not coincide when the transfusion is obtained, this life -saving tactics can cause reactions or even be fatal.
Most large blood groups were identified in the early 20th century. Many have discovered because, like the ER blood system, for the first time, described by researchers in 2022, only a small number of people have influenced. This is also the case for the new blood type.
“The job was difficult because genetic cases are very rare,” Tilly explained.
Previous studies have found that more than 99.9 percent of people have Anwj antigen, which has been missing from the patient’s blood since 1972. This antigen lives on myelin and lymphocyte protein, which causes researchers to call the newly described MAL blood group.
When someone has a mutated version of both copies Small Genes, they end with an anwj-negative blood type, such as the pregnant patient. Tilly and team identified three patients with rare blood type who did not have this mutation, suggesting that sometimes blood disorders can also cause antigen suppression.
“Mal is a very small protein with some interesting properties that make it difficult to identify and meant that we need to conduct multiple examination lines to gain the proof we need to identify this blood group system,” explained the Biologist of the University of Western Cell Tim Stochel.
To determine that they had the right gene, after decades of study, the team inserted normal Small A gene in blood cells that were negative. This effectively delivered anwj antigen to these cells.
Mal protein is known to play a vital role in maintaining cell membranes stable and helping cell transport. Moreover, previous studies have found that Anwj is not actually present in newborn babies, but appears shortly after birth.
Interestingly, all patients with negative ANWJ included in the study share the same mutation. However, it has not been found that other cellular abnormalities or diseases are related to this mutation.
Now that researchers have identified genetic markers behind Small Mutation, patients can be tested to check that their negative MAL blood type is inherited or due to suppression, which may be a sign of another major medical problem.
These rare blood odds can have a detrimental effect on patients, so the more we can understand, the more lives can be saved.
This study has been published in BloodS
A larger version of this article was published in September 2024.