Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases

Background: Next-generation sequencing (NGS) technology has been recently introduced into blood group genotyping; however, there are few studies using NGS-based blood group genotyping in real-world clinical settings. In this study, we applied NGS-based blood group genotyping into various immunohaematology cases encountered in routine clinical practice. Methods: This study included 4 immunohaematology cases: ABO subgroup, ABO chimerism, antibody to a high-frequency antigen (HFA), and anti-CD47 interference. We designed a hybridization capture-based NGS panel targeting 39 blood group-related genes and applied it to the 4 cases. Results: NGS analysis revealed a novel intronic variant (NM_020469.3:c.29-10T>G) in a patient with an Ael phenotype and detected a small fraction of ABO*A1.02 (approximately 3–6%) coexisting with the major genotype ABO*B.01/O.01.02 in dizygotic twins. In addition, NGS analysis found a homozygous stop-gain variant (NM_004827.3:c.376C>T, p.Gln126*; ABCG2*01N.01) in a patient with an antibody to an HFA; consequently, this patient’s phenotype was predicted as Jr (a−). Lastly, blood group phenotypes predicted by NGS were concordant with those determined by serology in 2 patients treated with anti-CD47 drugs. Conclusion: NGS-based blood group genotyping can be used for identifying ABO subgroup alleles, low levels of blood group chimerism, and antibodies to HFAs. Furthermore, it can be applied to extended blood group antigen matching for patients treated with anti-CD47 drugs.

Standort
Deutsche Nationalbibliothek Frankfurt am Main
Umfang
Online-Ressource
Sprache
Englisch

Erschienen in
Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases ; volume:49 ; number:2 ; year:2021 ; pages:88-97 ; extent:10
Transfusion medicine and hemotherapy ; 49, Heft 2 (2021), 88-97 (gesamt 10)

Urheber
Kim, Tae Yeul
Yu, HongBi
Phan, Minh-Trang Thi
Jang, Ja-Hyun
Cho, Duck

DOI
10.1159/000517565
URN
urn:nbn:de:101:1-2022041400195523919451
Rechteinformation
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Letzte Aktualisierung
15.08.2025, 07:32 MESZ

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Beteiligte

  • Kim, Tae Yeul
  • Yu, HongBi
  • Phan, Minh-Trang Thi
  • Jang, Ja-Hyun
  • Cho, Duck

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