Blood group “antigens” on red blood cells substances can trigger the body’s immune response that is different from person to person, mismatches in red blood cell antigens that are not related to differences in A, B and O blood groups can lead to death.

Currently, no method is available that can determine all blood antigens. But as whole genome sequencing becomes routine for patients, it may be possible to modernize therapy by identifying rare donors and at-risk recipients before blood transfusions.

Researchers from Brigham and Women’s Hospital and Harvard Medical School, as well as from the New York Blood Center have leveraged the MedSeq Project – the first randomized trial of whole genome sequencing in healthy adults-to develop and validate a computer program that can comprehensively and cost-effectively determine differences in individuals’ blood types with higher accuracy.

Blood transfusion complications are common in patients that need chronic transfusion, but with current technology it is not cost effective to do blood typing for all antigens,” said first author William Lane, MD, Ph.D., director of Clinical Laboratory Informatics and assistant director of the Tissue Typing Laboratory in the BWH Department of Pathology. The algorithm developed can be applied for all relevant blood groups after obtaining the sequencing.

Complications from blood transfusions can be life-threatening, when the body encounters foreign antigens on the donor cells, it can stimulate production of antibodies that can destroy the transfused donor cells. From birth, people have antibodies unique to their ABO blood type, but other antibodies against specific blood antigens can be stimulated during pregnancy from exposure to fetal cells or exposure to donor cells when receiving multiple blood transfusions.

This approach has the potential to be one of the first routine clinical uses of genomics for medical care for patients that need blood transfusion, It could prevents serious complications because once patients are sensitized they have a life-long risk of hemolytic transfusion reactions if blood transfusion is needed in an emergency.

Test for blood donors and patients include ABO and Rh matching, but more than 300 red blood cell antigens and 33 platelet antigens are known. To create a way to cost-effectively type many people for these antigens, researchers build a database and develop a computer software algorithm-bloodTyper, that could rapidly and accurately predict an individual’s blood group antigen profile from genomic sequences.

BloodTyper was accurate when typing from the MedSeq Project participants’ genomes, genome sequencing can now identify potential transfusion recipients who need rare blood types and the donor who can safely provide them.
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