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Immunohematology. 2021;37(4):178-184. doi: 10.21307/immunohematology-2021-029.

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Immunohematology

K Fennell, M A Keller, M A Villa, C Paccapelo, M Kucerakova, J Rosochova, C Clemente DosSantos, L Brackney, C J Lee, R Metcalf, G Crovetti, M Barbieri, S Travali, G Barrotta, G Giuca, L E Guerra, G Ochoa-Garay

Affiliations

  1. Laboratory Manager, Thermo Fisher Scientific , Austin, TX.
  2. Executive at American Red Cross Biomedical Services , Philadelphia, PA.
  3. Retired from Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico , Milan , Italy.
  4. Cinzia Paccapelo, SDc Biology, Senior Assistant in Immunohematology, Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico , Milan , Italy.
  5. Head, Department of Hematology and Blood Bank Narodna Transfuzna Sluzba SR , Bratislava , Slovakia.
  6. Specialist in Transfusion Medicine, Narodna Transfuzna Sluzba SR , Bratislava , Slovakia.
  7. Blood Bank Supervisor, Elmhurst Memorial Hospital , Elmhurst, IL.
  8. Medical Director of Blood Bank, Elmhurst Memorial Hospital , Elmhurst, IL.
  9. Assistant Professor of Internal Medicine, University of Utah Health , Salt Lake City , UT.
  10. Medical Director of Transfusion Service, University of Utah Health , Salt Lake City, UT.
  11. Medical Director, Immunoematologia e Centro Trasfusionale , ASST Valle Olona , Italy.
  12. Lab Technician, Immunoematologia e Centro Trasfusionale , ASST Valle Olona , Italy.
  13. Biologist, Laboratory Director, Servizio di Immunoematologia e Medicina Trasfusionale , Ragusa , Italy.
  14. Biologist, Executive Biologist, Servizio di Immunoematologia e Medicina Trasfusionale , Ragusa , Italy.
  15. Immunohematologist, Independent Consultant , Wimberly , TX.
  16. New York Blood Center , 45-01 Vernon Boulevard, Long Island City , NY 11101.

PMID: 34964317 DOI: 10.21307/immunohematology-2021-029

Abstract

Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire

Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire

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