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International Journal of Blood Transfusion and Immunohematology - IJBTI - Review Articles, Original Articles, Short Communication, Case Series, Case Reports, Letter to Editors
 
     
Case Report
 
A novel splice-site mutation in RHD gene associated with RhD negative phenotype
Maria Antonietta Villa1, Nicoletta Revelli1, Cinzia Paccapelo1, Francesca Truglio1, Araitz Molano2, Mónica López2
1Laboratorio di Immunoematologia di Riferimento - U.O.C. Centro Trasfusionale, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
2Progenika Biopharma, a Grifols Company, Derio, Spain

Article ID: 100034IJBTIMV2017
doi: 10.5348/ijbti-2017-34-CR-7

Corresponding Author:
Maria Antonietta Villa,
ScD, Laboratorio di immunoematologia di Riferimento U.O.C.
Centro Trasfusionale Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
Via F. Sforza, 35,
20122 Milano Italy
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How to cite this article
Villa MA, Revelli N, Paccapelo C, Truglio F, Molano A, López M. A novel splice-site mutation in RHD gene associated with RhD negative phenotype. Int J Blood Transfus Immunohematol 2017;6:46–50.


Abstract

Introduction: The Rh antigens are encoded by the highly polymorphic RHD and the RHCE genes. Individuals with D variants may make anti-D alloantibodies, which in pregnant women cause severe or fatal hemolytic disease of the fetus and newborn. Accurate D typing using reliable routine methods must be performed. A number of unusual RHD alleles are being currently reported due in large part to the growing implementation of molecular analyses.
Case Report: A sample from a Caucasian male blood donor at Northern Italy was serologically classified as RhD negative (Ccee). Instead, the sample was genotyped with all SSP-PCR kits as RhD positive, Dd and the result obtained with Partial D-TYPE (Dva or Va like or Va associated or DBS) was consistent with a suggestion of a new variant. Through a microarray platform analysis (BLOODchip Reference), the sample was genotyped as DV/DBS [RHD-CE(S)-D hybrid], associated with a predicted partial D phenotype for the RhD group, due to the lack of a hybridization signal for RHD exon 5. The PCR analysis of the exon 5 of the RHD gene gave a positive amplification result and the sequencing revealed a polymorphism in hemizygous or homozygous state in position RHD*IVS5+1t. This novel splice-site mutation alters or completely abolishes the specific sequence where the splicing of RHD gene intron 5 takes place.
Conclusion: The novel RHD mutation hereby described highlights the significance of using RHD genotyping to confirm and/or clarify D antigen uncertainties in order to prevent the unnecessary immunization of patients.

Keywords: D variants, Novel RHD mutation, Sequencing


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Acknowledgements
Serena Scognamiglio and Maurizio Marconi (Laboratorio di Immunoematologia di Riferimento) and Paola Ponzo (Grifols) are acknowledged for their critical review of the manuscript. Jordi Bozzo PhD CMPP (Grifols) is acknowledged for critical review and editorial support in the preparation of the manuscript.

Author Contributions
Maria Antonietta Villa – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Nicoletta Revelli – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Cinzia Paccapelo – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Francesca Truglio – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Araitz Molano – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Mónica López – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of Submission
The corresponding author is the guarantor of submission.
Source of Support
None
Conflict of Interest
Authors declare no conflict of interest.
Copyright
© 2017 Maria Antonietta Villa et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.



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