Like Indiana Jones. Scholars from the University of Bristol, as reported in a note from the English university, have managed to give a face (obviously invisible, but genetically demonstrated) to what for those who deal with the blood represented a mystery that dates back to about fifty years ago. And so they identified the genetic characteristics that lead some people, very few in truth, to have specific characteristics of a antigen called AnWi.
The new blood group is called MAL and characterizes the genetic bases that lead to the presence of this antigen, already known but still shrouded in mystery.
How did we reach this conclusion?
The research brought together experts from NHS Blood and Transplant (Bristol), the International Blood Group Reference Laboratory (IBGRL) at NHSBT and the University of Bristol. It is available online in the journal Blood (First name Louise Tilley).
In practice, always according to what is reported on the University website, the researchers have managed to determine the genetic characteristics of this new groupwhich gives information for the AnWj group antigen, previously known but never revealed in its essence.
The research team determined that AnWj is transported by the MAL protein. Over 99.9% of people are AnWj-positive. In these subjects, the vast majority of the human population, the MAL protein is expressed in its entirety in red blood cells. The same does not happen in AnWj-negative subjects. The team identified the possible genetic stamp of the MAL gene: these are homozygous deletions (i.e. very small, invisible “deficiencies”) that are associated with those who have hereditary characteristics that lead a person to be associated with AnWj-negative.
To reach this conclusion, the English research experts studied the genetic sequencing of all the DNA that codes for proteins, that is the exome. Thus they demonstrated that the rare hereditary cases were actually determined by homozygous DNA sequence deletions in the MAL gene, which encodes the MAL protein.
What it means to be Anwi-negative and what changes
Only a very limited number of people are AnWj-negative for a genetic cause. More often this condition may appear in the presence of specific pathologies.
In the study published in Blood, they considered five genetically AnWj-negative individualsincluding a family of Arab-Israelis. The blood analyzed included a sample provided by a woman in 2015, who was the first AnWj-negative person to be discovered in the 1970s. Probably, as the university reports, thanks to this discovery it will be easier to find others in the future.
The two best known blood group systems are ABO and Rhbut blood is more complex. And this discovery may further increase the transfusion safetyalthough it will be necessary to develop new specific tests. In fact, if AnWj-negative people were to receive AnWj-positive blood, they could also have a more or less intense reaction to the transfusion. The research could therefore allow us to develop new genotyping tests to identify these subjects and reduce the risk of complications transfusion-associated.
The AnWj antigen (an antigen is a surface marker) was discovered in 1972. In short, the identification of the genetic origin of this condition leads to 47 is the number of blood group systems known so far and paves the way for safer blood transfusions.
