DEL variants: review of molecular mechanisms, clinical consequences and molecular testing strategy

Yin, Qinan

doi:10.1007/s10142-023-01249-z

Cited by 2 publications

(2 citation statements)

References 91 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…RhD is encoded by the RHD gene and RHCE is responsible for the expression of the Rh C, c, E and e antigens [1]. Numerous RHD gene variants are described that contribute to the high degree of diversity of the Rh system [2][3][4][5][6][7][8], often making routine blood typing a very challenging task [9][10][11][12][13][14]. Alleles associated with qualitative (partial D), or quantitative (weak D) antigen variants, are reported.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Characterization of Novel RHD Allele Variants and Their Implications for Routine Blood Group Diagnostics

Matzhold,

Bemelmans,

Polin

et al. 2024

Biomedicines

View full text Add to dashboard Cite

The Rh system, including the highly immunogenic D antigen, is one of the clinically most important blood group systems in transfusion medicine. Numerous alleles of the RHD gene are associated with variant RhD phenotypes. In case of Rh incompatibility, some of them can induce hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. Thus, accurate blood group diagnostics are critical for safe transfusion therapy. We characterized phenotypes of four individuals revealing weakened D expression during routine pre-transfusion testing. Standard gel card matrix techniques with monoclonal and polyclonal anti-D antibodies were used for serological typing, complemented using D epitope and antigen density analysis. Genotyping employing PCR with sequence-specific primers, genomic and allele-specific Sanger sequencing and in silico protein analysis were performed. Four novel RHD alleles associated with weak D or partial D phenotypes were identified. One of the mutations is predicted to disrupt the terminal stop codon and result in an elongated translation of the mutant D protein that phenotypically exhibits a loss of D epitopes. Furthermore, a hybrid gene formed with the homologue RHCE gene is described. The presented data enhances the understanding of the Rh system and may contribute to continued advances in blood group diagnostics.

show abstract

Section: Introductionmentioning

confidence: 99%

“…However, some of these D variants may not be distinguished using serological typing methods and very weak antigen expression as caused by the rarer DEL alleles may even escape detection by standard typing. Therefore, the unambiguous identification of Rh blood group variants often requires the use of molecular methods [13,14,20,21].…”

Section: Introductionmentioning

confidence: 99%