After more than 50 years of uncertainty and significant scientific progress made it possible to determine the basic key to improving the diagnosis and treatment of some rare diseases.
The discovery brings to an end decades of study and promises that significant impact on the field of medicine, providing new opportunities to patients who are struggling with their health care.
What is blood type?
Blood type is a classification of blood based on the presence or absence of certain antigens (proteins or molecules) on the surface of red blood cells.
These antigens can trigger an immune response if they are perceived as foreign by the body, making the blood type very important in transfusions and transplants. The main classification systems are the system THEY and the Rh factor.
- ABO system: divided into four main groups: A, B, AB and O, depending on the A or B antigens on the red blood cells.
- AND: has antigen A.
- B: has B antigen.
- AB: has both antigens, A and B.
- O: has none of these antigens.
- Rh factor: determines whether the blood is positive or negative, depending on the presence of D antigen.
- Rh positive (+): has D antigen.
- Rh negative (-): does not have D antigen.
what did they find
Scientists from the British National Blood and Transplant Service (NHS Blood and Transplant) identified a a new blood group called MALsolving a mystery that remained unanswered for 50 years.
This discovery will enable diagnosis of rare diseases and improvement of treatment for those who suffer from them.
Researchers first examined the AnWj blood group antigen in 1972, but its rarity has made it impossible to determine its origin until now.
The discovery identified a a small number of people with this blood type, whether AnWj positive or negative. This makes it possible perform new tests to detect transfusion reactions between people with AnWj positive and negative blood.
How did the study go?
Magazine Bloodfrom the American Society of Hematology, published this study on the recently discovered MAL blood type.
According to researchers, more than 99.9% of people with this blood type they are positive AnWjwhile those with Negative AnWj they usually have hematological diseases or cancer.
Five members of an Israeli family with AnWj-negative blood participated in the study. In 2015, a woman donated a blood sample that allowed the team to discover through genetic sequencingthat these cases were caused by deletions in the MAL gene. This helped us understand how blood cells react when this gene is manipulated.
Louise Tilley, lead researcher, explained that solving the mystery of the AnWj antigen was a challenge for more than 50 years and a personal effort almost 20 for her.
He emphasized that this progress was made possible by teamwork and the use of advanced genetic sequencing, given that the MAL gene did not seem to be an obvious candidate.
Ash Toye, professor of cell biology, expressed his excitement at being able to manipulate gene expression in blood cells, which allowed the AnWj blood group identity to be confirmed.
This backup will not only essential for identifying blood donors with unusual characteristicswhich could be key in situations where patients need specific transfusions but also allowing you to personalize and improve your treatment for people with rare diseases.
Why is it important to know which group you belong to?
Knowing your blood type is essential for several reasons:
- blood transfusion: In the event of a medical emergency, knowing your blood type can be vital. If you need a transfusion, the medical staff must make sure that the donated blood is compatible with yours to avoid serious adverse reactions.
- blood donation: Knowing your blood type allows you to participate in blood donation in an informed way. Some people with rare blood types are especially valuable as donors because their blood can be crucial for patients who need it.
- Pregnancy: If you are pregnant, knowing your blood type is important to detect possible Rh incompatibilities between you and the fetus that could cause complications during pregnancy and delivery.
- Health and disease: Some studies suggest that certain blood types may be associated with an increased risk of developing certain diseases. Knowing your blood type can help you and your doctor assess your risks and consider preventative measures.
- medical tests: Knowing your blood type can make medical test results easier to interpret and, in some cases, contribute to a more accurate diagnosis.
