Application of blood group genotyping in complex cases of immunohematology

Red blood cell (RBC) group systems are depicted by antigens on the surface of RBCs, which when transfused to a recipient that lacks them, can result in alloimmunization. Thus, transfusion of matched RBC components to the recipient is recommended, especially for the more immunogenic blood group antigens, such as Rh (E, e, C, and c), Kell, Kidd, Duffy, and MNS.

The aim of this study was to perform the blood group genotyping from blood samples of 12 polytransfused patients whose phenotyping was inconclusive or incomplete.

The amplicons were amplified by polymerase chain reaction-sequence-specific primers for the following alleles: RHCE (RHCE * C, RHCE * c, RHCE * E, and RHCE * e), KEL (KEL * 01 and KEL * 02), FY (FY * 01 and FY * 02), and KID (JK * 01 and JK * 02), in addition to the GATA1-mutated gene (FY * 02N.01).

Discrepancies were found in the Rh (E) and Kidd systems, in addition to cases of Fyb antigen silencing attributed to the GATA mutation, which was present in all individuals with Fy (a-b-) phenotype. The technique also solved the inconclusive phenotyping caused by mixed-field agglutination.

The results show the contribution of blood group genotyping in complex immunohematology cases, optimizing the delivery of RBC components suitable for transfusion safety, and expanding the number of compatible donors for patients with the Fy (a-b) phenotype related to the FY (02N.01) allele.