Calling for Diversity: Improving Transfusion Safety Through High-Throughput Blood Group Microarray Genotyping

Area of Science:

• Genetics
• Immunology
• Transfusion Medicine

Background:

• Blood transfusions require donor-recipient red blood cell (RBC) antigen compatibility for safety.
• Ethnic genetic variations influence RBC antigen frequencies, complicating interethnic transfusions.
• Accurate blood group typing is vital for transfusion medicine, particularly for underrepresented ethnic groups.

Purpose of the Study:

• To develop and validate a cost-efficient, scalable microarray genotyping method for comprehensive blood group typing.
• To address challenges in typing the Rh and MNS blood group systems due to highly paralogous genomic loci.
• To ensure accurate blood group analysis in ethnically diverse populations.

Main Methods:

• Developed a novel microarray genotyping approach for blood group systems.
• Included specific strategies to overcome challenges with highly paralogous loci in Rh and MNS systems.
• Benchmarked the method using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) data from 1052 ethnically diverse samples.

Main Results:

• Achieved 99.95% benchmarking concordance and a 99.65% call rate.
• Demonstrated high accuracy in typing clinically important blood group systems, including Rh and MNS.
• Validated the method's performance on an ethnically diverse cohort.

Conclusions:

• The developed microarray genotyping method offers a highly accurate, cost-efficient, and scalable solution for comprehensive blood group analysis.
• This method is suitable for diverse sample sets and improves blood transfusion safety, especially for minority populations.
• Provides a valuable tool for high-throughput genotyping in transfusion medicine.