In 1972, when a pregnant woman underwent a blood test, physicians were baffled to find that it lacked a specific surface molecule present on all other recognized red blood cells. red blood cells at the time.
Fifty years later, this peculiar molecular gap prompted scientists from the UK and Israel to document a novel phenomenon. blood group system in humans.
"This marks a significant accomplishment and the end result of extensive teamwork to ultimately create this novel blood group system, enabling us to provide optimal care for these uncommon yet crucial patients," states UK National Health Service hematologist Louise Tilley. says , following almost two decades of my own research into this gruesome anomaly.
Although most of us are well-acquainted with the ABO blood group system and the Rh factor (the positive or negative component), humans indeed possess additional classifications. numerous distinct blood group classifications due to the extensive array of cell-surface proteins and sugars that cover our blood cells.
Our bodies utilize these antigen molecules for various roles, including serving as recognition tags to distinguish between 'self' and possibly dangerous foreign substances.
If these markers do not match up when receiving a blood transfusion, this life-saving tactic can cause reactions or even end up being fatal .
The majority of principal blood types were recognized during the early part of the 20th century. Numerous discoveries have been made since then, including the Er blood group system. initially identified by scientists in 2022 It affects only a limited number of individuals. The same applies to the newly discovered blood group.
The task was challenging due to the rarity of genetic cases, explains Tilley.
Earlier studies revealed that over 99.9 percent of individuals possess the AnWj antigen, which was absent in the blood of the 1972 patient. This antigen can be found on a myelin and lymphocyte protein , causing the researchers to refer to the newly identified system as the MAL blood group.
If an individual possesses a mutated form of both copies of their MAL genes, they will exhibit an AnWj-negative blood type, similar to the condition observed in the expectant mother. However, Tilley and her colleagues discovered three cases where individuals had this uncommon blood type without such mutations, indicating that certain hematological conditions might lead to suppression of the antigen as well.
MAL is a tiny protein possessing several intriguing characteristics that rendered it challenging to detect. Consequently, we had to explore various investigative avenues to gather sufficient evidence required for confirming this particular blood group system. explains Tim Satchwell, a cell biologist from the University of the West of England.
To confirm they had the right gene, following years of study, the researchers introduced the typical MAL gene into blood cells lacking the AnWj antigen. This successfully brought the AnWj antigen to these cells.
The MAL protein is recognized for its crucial function in maintaining the stability of cell membranes and facilitating cellular transportation. Additionally, previous research found that the AnWj doesn't actually appear in newborn babies but shows up shortly after they are born.
Notably, all the AnWj-negative patients in the study exhibited the same mutation. Nonetheless, no additional cellular irregularities or illnesses were linked to this particular alteration.
With the identification of the genetic indicators responsible for the MAL mutation, doctors can now test patients to determine whether their negative MAL blood type stems from inheritance or is caused by suppression, potentially signaling an additional health issue underneath.
These uncommon blood traits can lead to devastating impacts on patients , thus the greater our understanding of them, the more lives can be preserved.
This study was released in Blood .
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