<abstract xmlns="http://www.w3.org/1999/xhtml"><p>According to recent work group recommendations, individuals with the serologic weak D phenotypes should be <italic>RHD</italic> genotyped and individuals with molecular weak D types 1, 2, 3, 4.0, or 4.1 should be treated as D+. We report an African American woman with a long-standing history of metrorrhagia, who presented for infertility evaluation. Blood grouping showed AB with a possible subgroup of A, based on mixed-field agglutination, and a serologic weak D phenotype. Results from routine red cell genotyping for the <italic>RHD</italic> gene was incongruent with the serologic RhCE phenotype. For the surgical procedure, the patient was hence scheduled to receive group AB, D– RBC transfusions. Subsequent molecular analysis identified the <italic>ABO*A2.01</italic> and <italic>ABO*B.01</italic> alleles for the <italic>ABO</italic> genotype and the novel <italic>RHD</italic> allele [<italic>NG_007494.1(RHD):c.611T>A</italic>] along with an <italic>RHD*09.01.02</italic> allele for the <italic>RHD</italic> genotype. Using a panel of monoclonal anti-D reagents, we showed the novel <italic>RHD(I204K)</italic> allele to represent a serologic weak D phenotype, despite occurring as a compound heterozygote, designated <italic>RHD*weak D type 161</italic> (<italic>RHD*01W.161</italic>). Individuals with a <italic>weak D type 4.2</italic> allele are prone to anti-D immunization, while the immunization potential of novel <italic>RHD</italic> alleles is difficult to predict. For now, patients should be treated as D– in transfusion and pregnancy management, when they harbor a novel <italic>RHD</italic> allele along with any <italic>weak D</italic> allele other than <italic>weak D types 1, 2, 3, 4.0</italic>, or <italic>4.1</italic>. This study exemplifies strategies for how and when a laboratory should proceed from routine genotyping to nucleotide sequencing before any decisions on transfusion practice is made.</p></abstract>

According to recent work group recommendations, individuals with the serologic weak D phenotypes should be RHD genotyped and individuals with molecular weak D types 1, 2, 3, 4.0, or 4.1 should be treated as D+. We report an African American woman with a long-standing history of metrorrhagia, who presented for infertility evaluation. Blood grouping showed AB with a possible subgroup of A, based on mixed-field agglutination, and a serologic weak D phenotype. Results from routine red cell genotyping for the RHD gene was incongruent with the serologic RhCE phenotype. For the surgical procedure, the patient was hence scheduled to receive group AB, D– RBC transfusions. Subsequent molecular analysis identified the ABO*A2.01 and ABO*B.01 alleles for the ABO genotype and the novel RHD allele [NG_007494.1(RHD):c.611T>A] along with an RHD*09.01.02 allele for the RHD genotype. Using a panel of monoclonal anti-D reagents, we showed the novel RHD(I204K) allele to represent a serologic weak D phenotype, despite occurring as a compound heterozygote, designated RHD*weak D type 161 (RHD*01W.161). Individuals with a weak D type 4.2 allele are prone to anti-D immunization, while the immunization potential of novel RHD alleles is difficult to predict. For now, patients should be treated as D– in transfusion and pregnancy management, when they harbor a novel RHD allele along with any weak D allele other than weak D types 1, 2, 3, 4.0, or 4.1. This study exemplifies strategies for how and when a laboratory should proceed from routine genotyping to nucleotide sequencing before any decisions on transfusion practice is made.

Transfusion support for a woman with <italic>RHD*09.01.02</italic> and the novel <italic>RHD*01W.161</italic> allele <italic>in trans</italic>

Immunohematology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Transfusion support for a woman with  and the novel  allele 

According to recent work group recommendations, individuals with the serologic weak D phenotypes should be RHD genotyped and individuals with molecular weak D...

Transfusion support for a woman with RHD09.01.02 and the novel RHD01W.161 allele in trans

Article Category: Case Report

Data publikacji: 29 kwi 2022

Zakres stron: 17 - 24

DOI: https://doi.org/10.21307/immunohematology-2022-036

© 2022 K. Srivastava, M.U. Bueno, and W.A. Flegel, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Transfusion support for a woman with RHD*09.01.02 and the novel RHD*01W.161 allele in trans

Article Category: Case Report

Data publikacji: 29 kwi 2022

Zakres stron: 17 - 24

DOI: https://doi.org/10.21307/immunohematology-2022-036

© 2022 K. Srivastava, M.U. Bueno, and W.A. Flegel, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Transfusion support for a woman with RHD09.01.02 and the novel RHD01W.161 allele in trans