Journal article
A cold case of hemolytic disease of the fetus and newborn resolved by genomic sequencing and population studies to define a new antigen in the Rh system
Transfusion, Vol.64(6), pp.1171-1176
2024
PMID: 38686705
Abstract
Background
We report an obstetric case involving an RhD-positive woman who had developed a red blood cell (RBC) antibody that was not detected until after delivery of a newborn, who presented with a positive direct antiglobulin test result. Immunohematology studies suggested that the maternal antibody was directed against a low-prevalence antigen on the paternal and newborn RBCs.
Results
Comprehensive blood group profiling by targeted exome sequencing revealed a novel nonsynonymous single nucleotide variant (SNV) RHCE c.486C>G (GenBank MZ326705) on the RHCE*Ce allele, for both the father and newborn. A subsequent genomic-based study to profile blood groups in an Indigenous Australian population revealed the same SNV in 2 of 247 individuals. Serology testing showed that the maternal antibody reacted specifically with RBCs from these two individuals.
Discussion
The maternal antibody was directed against a novel antigen in the Rh blood group system arising from an RHCE c.486C>G variant on the RHCE*Ce allele linked to RHD*01. The variant predicts a p.Asn162Lys change on the RhCE protein and has been registered as the 56th antigen in the Rh system, ISBT RH 004063.
Conclusion
This antibody was of clinical significance, resulting in a mild to moderate hemolytic disease of the fetus and newborn (HDFN). In the past, the cause of such HDFN cases may have remained unresolved. Genomic sequencing combined with population studies now assists in resolving such cases. Further population studies have potential to inform the need to design population-specific red cell antibody typing panels for antibody screening in the Australian population.
Details
- Title
- A cold case of hemolytic disease of the fetus and newborn resolved by genomic sequencing and population studies to define a new antigen in the Rh system
- Authors
- Brett Wilson - Australian Red Cross LifebloodCandice L. Davison - Australian Red Cross LifebloodGenghis H. Lopez - University of the Sunshine Coast, Queensland, School of Health and Behavioural Sciences - LegacyGlenda M. Millard - Australian Red Cross LifebloodYew-Wah Liew - Australian Red Cross LifebloodTanya Powley - Australian Red Cross LifebloodTamika Campbell - Toowoomba HospitalSudhir S. Jadhao - Queensland University of TechnologyShivashankar H. Nagaraj - Queensland University of TechnologyMaree Perry - Australian Red Cross LifebloodEileen V. Roulis - Queensland University of TechnologyMaree Toombs - UNSW SydneyDavid O. Irving - Australian Red Cross LifebloodRobert L. Flower - Queensland University of TechnologyCatherine A. Hyland (Corresponding Author) - Australian Red Cross Blood Service
- Publication details
- Transfusion, Vol.64(6), pp.1171-1176
- Publisher
- Wiley-Blackwell Publishing, Inc.
- Date published
- 2024
- DOI
- 10.1111/trf.17205
- ISSN
- 1537-2995
- PMID
- 38686705
- Organisation Unit
- School of Health and Behavioural Sciences - Legacy
- Language
- English
- Record Identifier
- 991026295602621
- Output Type
- Journal article
Metrics
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- Domestic collaboration
- Web Of Science research areas
- Hematology
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Source: InCites