A family study of MNS system antigen polymorphism

Czech version

Authors: P. Papoušek ¹; M. Kracík ²; I. Dolinová ²; L. Řehořová ¹; R. Procházková ^1,3
Authors‘ workplace: Transfuzní oddělení, Krajská nemocnice Liberec, a. s. ¹; Oddělení genetiky a molekulární dia gnostiky, Krajská nemocnice Liberec, a. s. ²; Fakulta zdravotnických studií, Technická univerzita v Liberci ³
Published in: Transfuze Hematol. dnes,30, 2024, No. 2, p. 118-121.
Category: Original Papers
doi: https://doi.org/10.48095/cctahd2024prolekare.cz10

Overview

SUMMARY: Background: Mutations in the genes GYPA and GYPB encoding the MNS system can cause reduced to absent expression of antigens on the surface of red cells. This may lead to discrepant findings between immunohematological and genetic results. The aim of this study was to demonstrate that the discrepant finding in the investigation of MNS system antigens may be caused by a mutation in the GYPB gene and to investigate whether this mutation is also present in the patient‘s offspring. Materials and methods: In 2019, the extended MNS phenotype was examined by immunohematology using column and tube agglutination in patient A1 at the Transfusion Department of the Regional Hospital Liberec (KNL). These findings were confirmed at the Institute of Haematology and Blood Transfusion (IHBT) by column agglutination and genotyped by Fluogene PCR. In 2022, blood samples of patient A1‘s offspring were examined by immunohematological methods: phenotype by column agglutination and solid phase method at the Transfusion Department, KNL, and by column agglutination at the IHBT. Genetic testing was performed using real-time PCR ERY Q KKD/MNS-TYPE at the Department of Genetics and Molecular Diagnostics (OGMD), KNL, and by PCR methods: PCR Fluogene and ID CORE XT at the IHBT. Results: In patient A1, discrepant findings in antigen S were found: antigen phenotype S–s+ and genotype S+s+. All blood relatives of the patient (descendants) were examined – 9 in total (3 sons, 1 daughter, 4 grandchildren and 1 great-grandchild). The proband‘s descendants were found to have S+ or S– antigen, but there was never a discrepant result between immunological and genetic methods. Conclusion: In patient A1, a discrepant finding was observed in the results of the antigen S, which was most likely caused by a genetic change in the glycophorin B gene. This mutation was not passed on to any of the offspring.

Keywords:

red cell antigens – discrepant findings – family study

Sources

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PODÍL AUTORŮ NA PŘÍPRAVĚ RUKOPISU

PP – příprava a provádění studie, sestavení rukopisu

MK, ID – vyšetřování, revize rukopisu

LŘ – zajištění imunohematologických vyšetřování, revize rukopisu

RP – příprava studie a revize rukopisu

Všichni autoři schválili finální verzi rukopisu.

PODĚKOVÁNÍ

Autoři děkují MUDr. Písačkovi a Mgr. Králové z ÚHKT za vyšetření vzorků.

Projekt byl finančně podpořen z Fondu podpory vědeckých projektů Vědecké rady Krajské nemocnice Liberec, a. s., VR 210307.

ČESTNÉ PROHLÁŠENÍ

Autoři práce prohlašují, že v souvislosti s tématem, vznikem a publikací tohoto článku nejsou ve střetu zájmů a vznik ani publikace článku nebyly podpořeny žádnou farmaceutickou firmou.

Do redakce doručeno dne: 21. 12. 2023.

Přijato po recenzi dne: 16. 4. 2024.

MUDr. Petr Papoušek

Transfuzní oddělení

Krajská nemocnice Liberec, a. s.

Baarova 15

460 63 Liberec 1

e-mail: petr.papousek@nemlib.cz