Researchers in the United Kingdom have discovered a rare new blood group system: MAL. The discovery, published in the scientific journal Blood, a journal of the American Society of Hematology, solves a 52-year-old mystery surrounding the genetic origin of an antigen that is absent in a small portion of the world’s population.
The AnWj antigen is present in 99.9% of people. However, individuals who do not have it are at risk of severe reactions when receiving blood transfusions from people who do have this antigen. The discovery of the genetic origin of this antigen allows the development of new genotyping tests to identify AnWj-negative patients and reduce the risks associated with transfusion.
The AnWj antigen was discovered in 1972, but its origin was unknown until then. Antigens are proteins found on the surface of red blood cells, the blood cells responsible for transporting oxygen and carbon dioxide. The team discovered that AnWj is carried on the MAL protein, which is present on the red blood cells of AnWj-positive individuals but not on those of AnWj-negative individuals.
Node studythere were five genetically AnWj-negative people, including a family of Israeli Arabs. The blood tested also included a sample from a lady in 2015, who was the first AnWj-negative person to be discovered, in the 1970s.
Using whole exome sequencing — genetic sequencing of all the DNA that codes for proteins — it was possible to show that the hereditary cases related to the absence of the antigen in the blood were caused by DNA sequence deletions in the MAL gene, which codes for the protein of the same name. This means that there were parts of the DNA that were lost or deleted.
Proof that the MAL protein is responsible for the binding of AnWj antibodies isolated from these rare patients was provided by experiments that showed the appearance of specific reactivity with cells into which the researchers had introduced the normal MAL gene, but not the mutant gene.
“The genetic background of AnWj has been a mystery for over 50 years, and one that I have personally been trying to solve for almost 20 years of my career. It represents a major achievement, and the culmination of a long team effort, to finally establish this new blood group system and be able to offer the best care to rare but important patients,” said Louise Tilley, senior research scientist at the International Blood Group Reference Laboratory at NHS Blood and Transplant, UK. statement.
“The work was difficult because genetic cases are very rare. We would not have been able to do this without exome sequencing, as the gene we identified was not an obvious candidate and little is known about the MAL protein in red blood cells. Proving our findings was challenging, and we are grateful for the help of all our collaborators and patients, without whom we would not have reached this point,” he adds.
According to researchers, with the discovery it will be possible to carry out genotyping tests to identify AnWj-negative patients and donors.
This content was originally published in New blood group system discovered by researchers; understand on the CNN Brasil website.
Source: CNN Brasil
I am an experienced journalist and writer with a career in the news industry. My focus is on covering Top News stories for World Stock Market, where I provide comprehensive analysis and commentary on markets around the world. I have expertise in writing both long-form articles and shorter pieces that deliver timely, relevant updates to readers.
