Alloanti‐D in a <scp>DBT</scp> pregnant woman responsible for hemolytic disease of the fetus and newborn: Molecular study and genetic counseling

The RHD variant identified in the maternal sample was responsible for a partial D phenotype. This case highlights the limitations of routine serologic typing for the D antigen, which misidentified a partial D phenotype as D+, preventing the patient from receiving appropriate prophylactic RhIg treatment. Interestingly, the QMPSF-based strategy resulted in a simple, reliable, and effective method for a relevant allele characterization in all family members. Noteworthy, genetic counseling was provided to the proband's brother carrying the RHD*14.02 variant at the heterozygous state with an RHD*01 allele.

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Publication Details

Journal
Transfusion
Published
2025-08-03
DOI
https://doi.org/10.1111/trf.18369
Primary Topic
Blood groups and transfusion
Type
article
Field-Weighted Citation Impact
0.00

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article

Alloanti‐D in a DBT pregnant woman responsible for hemolytic disease of the fetus and newborn: Molecular study and genetic counseling

Yann Fichou, Caroline Bénech, Melina Luján Brajovich, M. Orlandi et al.
Transfusion
Blood groups and transfusion
article

Alloanti‐D in a DBT pregnant woman responsible for hemolytic disease of the fetus and newborn: Molecular study and genetic counseling

Yann Fichou, Caroline Bénech, Melina Luján Brajovich, M. Orlandi, Carolina Trucco Boggione, Carlos Cotorruelo, María José Pigozzi
article en

Abstract

The RHD variant identified in the maternal sample was responsible for a partial D phenotype. This case highlights the limitations of routine serologic typing for the D antigen, which misidentified a partial D phenotype as D+, preventing the patient from receiving appropriate prophylactic RhIg treatment. Interestingly, the QMPSF-based strategy resulted in a simple, reliable, and effective method for a relevant allele characterization in all family members. Noteworthy, genetic counseling was provided to the proband's brother carrying the RHD*14.02 variant at the heterozygous state with an RHD*01 allele.

TransfusionVol. 65(10)
Inserm (FR), Université de Bretagne Occidentale (FR), National University of Rosario (AR), Établissement Français du Sang (FR)
Universidad Nacional de Rosario
Good health and well-being
Openalex Percentile: Top 76%
Blood groups and transfusion
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