Transfusion medicine (Oxford, England) · 2026
A rare Gerbich-negative (Ge:-2,-3,4) phenotype in a Peruvian patient.
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Del Pino Jimmy Rinaldo Morales, García Karla Alexandra Paredes, Pimentel Carlos Enrique Penalillo, Carlos Anita Del Carmen Leyva, Iii Sagastegui Soto Arturo Ampelio
Аннотация
OBJECTIVES: To describe the serological and molecular characteristics of a rare Gerbich-negative phenotype detected in a Peruvian patient.
BACKGROUND: The Gerbich blood group (Ge) system includes high-prevalence antigens (Ge2, Ge3, Ge4) encoded by the GYPC gene. Absence of these antigens is extremely rare and has been reported mainly in Melanesian and Middle Eastern populations. To our knowledge, no molecularly confirmed cases have been reported in Peru.
METHODS/MATERIALS: A 65-year-old Peruvian man scheduled for orthopaedic surgery underwent pretransfusion testing, including an indirect antiglobulin test, antibody identification using Low Ionic Strength Solution (LISS)/Coombs column agglutination cards at 37°C, papain-treated reagent red cells, a direct antiglobulin test, autocontrol, differential alloadsorptions and neutralization studies. Anti-Ge2 reference serum (IBGRL 4370) and molecular analysis of GYPC were performed.
RESULTS: Pretransfusion testing showed panagglutination with 2+ reactions in all reagent red cells; no reaction was observed with papain-treated cells. The direct antiglobulin test, autocontrol and additional serological studies were negative. The antibody titre was 1:8. No reactivity was observed with anti-Ge2, and molecular analysis identified the GE*01.-03.02 allele, responsible for the Gerbich phenotype (Ge:-2,-3,4).
CONCLUSION: This report describes a rare Gerbich-negative phenotype in a Peruvian patient and highlights the importance of molecular typing for transfusion management.
BACKGROUND: The Gerbich blood group (Ge) system includes high-prevalence antigens (Ge2, Ge3, Ge4) encoded by the GYPC gene. Absence of these antigens is extremely rare and has been reported mainly in Melanesian and Middle Eastern populations. To our knowledge, no molecularly confirmed cases have been reported in Peru.
METHODS/MATERIALS: A 65-year-old Peruvian man scheduled for orthopaedic surgery underwent pretransfusion testing, including an indirect antiglobulin test, antibody identification using Low Ionic Strength Solution (LISS)/Coombs column agglutination cards at 37°C, papain-treated reagent red cells, a direct antiglobulin test, autocontrol, differential alloadsorptions and neutralization studies. Anti-Ge2 reference serum (IBGRL 4370) and molecular analysis of GYPC were performed.
RESULTS: Pretransfusion testing showed panagglutination with 2+ reactions in all reagent red cells; no reaction was observed with papain-treated cells. The direct antiglobulin test, autocontrol and additional serological studies were negative. The antibody titre was 1:8. No reactivity was observed with anti-Ge2, and molecular analysis identified the GE*01.-03.02 allele, responsible for the Gerbich phenotype (Ge:-2,-3,4).
CONCLUSION: This report describes a rare Gerbich-negative phenotype in a Peruvian patient and highlights the importance of molecular typing for transfusion management.