In 1972, a pregnant woman’s blood sample was missing a crucial molecule that is found on all other red blood cells. Fast forward over 50 years, and scientists from the UK and Israel have linked this oddity to a newly identified blood group system. Their findings were published in 2024.
Hematologist Louise Tilley from the UK National Health Service remarked, “This represents a huge achievement,” highlighting the team’s dedication over nearly two decades to understand this unusual case.
Most people are familiar with the ABO blood group and the Rh factor, which determine basic blood types. However, humans have many different blood group systems shaped by various proteins and sugars on blood cells. These molecules act like ID tags, helping the body recognize what’s ‘self’ and what’s ‘not-self.’
Identifying a match is crucial during blood transfusions. Mismatched blood can lead to severe reactions, sometimes even fatal ones. Early in the 20th century, most major blood groups were categorized. Recently, rare blood types like the Er system were discovered, and this new group, part of the MAL blood group, falls into that same rare category.
Tilley explained, “The work was difficult because the genetic cases are very rare.” Previous studies found that more than 99.9% of people have the AnWj antigen. This antigen’s absence indicates a MAL blood type, as its gene can have mutations that prevent its expression. Interestingly, some patients had AnWj-negative blood without exhibiting the genetic mutations, suggesting that certain blood disorders could mask the presence of this antigen.
The MAL protein is a small but important piece of our cell’s makeup. It helps keep cell membranes stable and facilitates transport within cells. Research revealed that AnWj does not appear until shortly after birth, making its study even more complex.
Researchers used advanced techniques to confirm their findings. They inserted a normal MAL gene into blood cells lacking the AnWj antigen, successfully triggering its expression.
Understanding these rare blood types can dramatically impact patient care. Now that we can identify the genetic roots of the MAL blood type, medical professionals can better assess whether this absence is inherited or caused by other health issues.
This groundbreaking research sheds light on what might seem like small mysteries in our biology. For rare blood types, each discovery could potentially save lives.
For more on the topic, check out the findings published in Blood.
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