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what we know and what diseases it can cause- breaking latest news

by admin
what we know and what diseases it can cause- breaking latest news
from Silvia Turin

A group identified in 1982 carries mutations that can be harmful: the loss of two newborns led to the study of the antigens that caused their haemolytic disease. Important step in prevention

A severe bereavement (the loss of two infants) later led to the discovery of a new, rare, blood group that was named Er and, in particular, the typing of some
antigens
mutates that can cause serious malfunctions if not detected in time.

Recent research

Actually the Er group was identified in 1982, but Er’s molecular background is still not fully explored because of the rarity of this group: in a study published in the journal Blood in September, the team led by Nicole Thornton, of the National Health Service Blood and Transplant (NHSBT) of the United Kingdom, found that antibodies directed against two new Er antigens are associated with severe hemolytic disease of the fetus and newborn. They did this by analyzing the blood of 13 patients for the suspected antigens. They identified five variations in the Er antigens: the known variants Er a, Er b, Er3 and two new ones Er4 and Er5. By sequencing the patients’ genetic codes, they were able to pinpoint the gene that codes for cell surface proteins. It was a gene already familiar to medical science: PIEZO1, associated with several known diseases. Mice without this gene die before birth, and those that have the gene only eliminated in their red blood cells end up with overhydrated and fragile blood cells. Scientists confirmed their results by eliminating PIEZO1.

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The mother-unborn problem

The findings are important for some rare cases in transfusion medicine. When a blood cell presents with an antigen that our body has not classified as ours, our immune system activates, sending antibodies to signal the destruction of suspected antigen-carrying cells. In some cases, a discrepancy between an unborn baby and the mother’s blood type can cause problems if the mother’s immune system becomes sensitive to foreign antigens. The antibodies generated in response can then pass through the placenta, leading to the hemolytic disease in the unborn child.

Many blood group systems

Today there are several methods to prevent or even cure hemolytic disease in newborns, for some very rare cases, such as the one that gave rise to the study, a blood transfusion after the caesarean section was not enough, because this was precisely a piece of knowledge for doctors and researchers. The blood groups we are most familiar with are ABO and rhesus factor (which is the + or -), but there are actually many different blood group systems based on a wide variety of cell surface antigens and their variants. Their study is important to prevent negative clinical effects such as those described.

October 11, 2022 (change October 11, 2022 | 14:52)

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