Molecular mechanism of ABO bood group variation

Abstract

Objective To study the relationship between ABO subtype, para-Bombay blood group and genotype, so as to explore the possible molecular mechanism of these two blood groups, and provide accurate genetic detection targets and theoretical basis for the accurate identification of ABO blood group. Methods First, the serology of 24 200 patients with blood type identification in the Ruijin Hospital from February to December in 2022 were analyzed, as well as 10 ambiguous ABO samples from other hospitals(3 were suspected ABO subtype and 7 were suspected para-Bombay blood group). Then ABO subtypes and para-Bombay blood groups were directly sequenced or post-clonal sequencing was performed to analyze ABO, FUT1 and FUT2 gene sequences. Results Among the 24 200 patients underwent blood type identification, 7 cases of ABO subtypes were detected. Among the 10 ambiguous samples sent by other hospitals, 2 of ABO subtypes, 1 of normal type A, and 7 of para-Bombay blood type were detected. In total, we identified blood types as follows: 1) 9 ABO subtypes: Ael(AEL.02/O.01.02), AelB(AEL.05/B.01), three of B3(2 of B3.03/O.01.01, 1 of B3.03/O.01.02), B(A)(BA.02/O.01.01), ABweak(A1.02/BW.07), Bweak(BW.31 /O.01.02), A2Bweak(A2.05 /BW.31); 2) 7 para-Bombay blood group: ABmh (FUT1*01N.13/FUT1*01N.13), 4 of Amh (3 of FUT1*01N.06/FUT1*01N.13, 1 of FUT1*01N.13/FUT1*01N.13); two of Bmh (FUT1*01N.06 /FUT1*01N.06, FUT1*01N.06/FUT1*01N.13), all of FUT2 of the 7 cases were FUT2*01/FUT2*01. Conclusion Clinical ABO blood group variant samples need to be identified in combination with serological and molecular biology to improve the accuracy of identification, thus providing a reference for safe blood transfusion, organ transplantation, and the prediction and prevention of fetal-maternal immune hemolytic disease.

Keywords

• abo subtype
• para-bombay blood group
• gene mutation
• molecular mechanism