researcher looking into a 50 - class - old mystery surrounding a rare missing antigen have discovered a unexampled blood group organization called MAL .
Yourblood typeis determined by the bearing or absence seizure of specific antigen , with the principal types people acknowledge beingA , B , O , and AB(positives and negative ) . However , blood group are slightly different .
" The condition ' stemma mathematical group ' refers to the entire blood group system , " a2014 paperon the topic explains , " comprising scarlet blood cell antigens whose specificity is controlled by a serial of gene . "
There are this many groups because there are many ways of grouping red rip cells based on the antigen on their surfaces . As of November 2023 , there were 45 recognized distinct blood group system , according to theInternational Society of Blood Transfusion , moderate 362 red prison cell antigens .
In 1972 , apregnant charwoman ’s bloodwas tested , and she was found to not have a highly prevalent red blood cell antigen . The antigen , which they dubbed AnWj after two patient who miss it , is miss in only a handful of hoi polloi that scientist know of . The most common reason for leave out it are cancers that subdue antigen expression , and hematological disorders . However , five individuals name in the new study , including several members of one kinsfolk , seem to miss it due to a genetic causal agency .
" The AnWj - negatively charged phenotype is commonly due to transient stifling of antigen grammatical construction , connect with sure hematologic disorder and malignancies , " the team excuse in their cogitation . " Such suppression of blood group antigens , with associated antibody product against the suppressed antigen , is an found phenomenon , see to it for example in Kell , Kidd and LW organization . In such pillow slip , it has been theorise that acquired reduction of antigen expression on the patient ’s red cells lead to development of the antibody , typically during maternity or follow blood transfusion . "
Analyzing the patients ' exomes – which is the genetic sequencing that encodes proteins – the team find specific homozygous DNA sequence deletions in the gene that slang for the myelin and lymphocyte protein , know as theMALgene .
" AnWj - positive individuals were shown to show full - distance Mal on their red prison cell membranes , which was not present on the tissue layer of AnWj - damaging individual , whether of an transmissible or suppression backdrop , " the squad continue . " Furthermore , attach of anti - AnWj was able to inhibit tie down of anti - Mal to AnWj - positive red cells , present the antibodies bind to the same corpuscle . "
The squad named the new rip group scheme , define by whether you have thisantigenor not , as MAL .
“ The genetic backcloth of AnWj has been a mystery for more than 50 year , and one which I in person have been trying to resolve for almost 20 years of my career . It represents a huge accomplishment , and the culmination of a long team effort , to finally establish this unexampled rake group scheme and be capable to offer the skillful care to rare , but important , patients , " Louise Tilley , Senior Research Scientist , IBGRL Red Cell Reference at NHS Blood and Transplant , said in astatement .
“ The work was unmanageable because the genetic cases are very rare . We would not have achieve this without exome sequencing , as the cistron we distinguish was n’t an obvious candidate and small is known about Mal protein in red cells . rise our findings was challenging , and we appreciate the assistant of all our collaborators , and the affected role , without whom we would not have generate to this power point . ”
The presence of alloantibody can make problem during transfusion if there is a mismatch between presenter and recipient role , as well as triggering attack on the resistant systemduring maternity . Though miss this specific antigen is incredibly rarified , knowing about it will help keep patients good during blood transfusions , reducing the chance of such contrary transfusion reactions .
The study is issue inBlood , the daybook of the American Society of Hematology .
