A team of scientists from the UK and Israel have managed to solve the mystery that lies behind rare blood group, AnWjafter fifty years of research.
This advance not only revealed its genetic origins, but created a new classification system, the MAL system, which became the 47th identified to date.
The discovery was made possible by a collaboration between researchers from NHS Blood and Transplant, the NHSBT International Blood Group Reference Laboratory and the University of Bristol, DW reports.
This finding will improve the identification and treatment of patients with this rare disease, who may face serious complications if they receive an incompatible blood transfusion.
Mysterious blood type
The AnWj antigen was discovered in 1972 when doctors noticed the absence of the molecule in the red blood cells of a pregnant woman. However, the genetic cause of this peculiarity has remained unknown until now.
According to the study, which will be published in the American Society of Hematology Blood journal, the AnWj antigen is related to the Mal protein, and its presence or absence is caused by genetic variation.
Louise Tilley, principal investigator of the IBGRL, expressed her delight at the progress: “The genetic origin of AnWj has been a mystery for more than 50 years,” she said.
“To finally create this new blood grouping system and be able to offer the best care to rare patients is a great achievement and the culmination of a long team’s work,” he added.
The success of the research was achieved thanks to the use of whole exome sequencing, which made it possible to identify that a mutation in the MAL gene is responsible for the absence of the antigen in some patients.
Although more than 99.9% of people are AnWj positive, those who are AnWj negative are at risk of serious reactions if they receive an incompatible transfusion.
Most people are familiar with the ABO and Rh systems, but there are many more based on the proteins and sugars that coat red blood cells.
These antigens allow the body to distinguish between its own cells and those of others, which is crucial in blood transfusions.
Professor Ash Toye from the University of Bristol emphasized the importance of this finding: “It is really exciting that we have been able to use our ability to manipulate gene expression in blood cells to help confirm the identity of the AnWj blood group.”
Nicole Thornton, Head of Red Blood Cell Reference at IBGRL, said it is now possible to design genetic tests to identify patients and donors who are AnWj negative, which could save lives in the future.
