A novel <scp>SNV</scp> on a previously reported hybrid <i>RHCE</i> background is responsible for an Rh haplotype potentially involved in the generation of an Rh null phenotype-Reference-Cited by-同舟云学术

A novel SNV on a previously reported hybrid RHCE background is responsible for an Rh haplotype potentially involved in the generation of an Rh null phenotype

Published:2022-10-17 Issue:11 Volume:62 Page:
ISSN:0041-1132
Container-title:Transfusion
language:en
Short-container-title:Transfusion

Author:

Principi Cintia¹^ORCID,Trucco Boggione Carolina¹,Mestra Campo Bleidy²,Posner Victoria¹,Zani Nestor²,Luján Brajovich Melina¹,Villanueva Mariana²,Mattaloni Stella Maris¹,Ensinck Alejandra¹,Biondi Claudia¹,Cotorruelo Carlos¹

Affiliation:

1. Universidad Nacional de Rosario – Facultad de Ciencias Bioquímicas y Farmacéuticas, Laboratorio de Inmunohematología e Inmunogenética IDICER – CONICET Rosario Argentina

2. Servicio de Hemoterapia Hospital Nacional Profesor Alejandro Posadas Buenos Aires Argentina

Funder

Agencia Nacional de Promoción Científica y Tecnológica

Universidad Nacional de Rosario

Publisher

Wiley

Subject

Hematology,Immunology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/trf.17126

Reference4 articles.

1. International Society of Blood Transfusion (ISBT).Red cell immunogenetics and blood group terminology.2020.http://www.isbtweb.org/working‐parties/red‐cellimmunogenetics‐and‐bloodgroup‐terminology/. Accessed May 2022.

2. A convenient qualitative and quantitative method to investigate RHD‐RHCE hybrid genes;Fichou Y;Transfusion,2013

3. A newRHCEvariant allele,RHCE*48C,1170T,1193A

4. A new RHCE*01 allele harboring the p.Tyr269 stop nonsense mutation seems to abolish the RHCE expression, and when associated with the RHD*01N.01 allele may be responsible for the Rh null phenotype;Thonier V;Vox Sang,2017