Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).
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A novel nonsense variant in RHAG underlies a Nordic Rh phenotype.
Vox Sang
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Department of Clinical Immunology and Transfusion Medicine, Office for Medical Services, Region Skåne, Sweden.
Background And Objectives: The extremely rare Rh phenotype is characterized by the absence of all Rh antigens on erythrocytes. It is divided into the regulator and amorph types based on the underlying genetic background. The more common regulator type depends on critical variants silencing RHAG, which encodes RhAG glycoprotein, necessary for RhD/RhCE expression.
View Article and Find Full Text PDFA new high-prevalence LW antigen detected by an antibody in an Indigenous Australian homozygous for LW*A c.309C>A variant.
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July 2022
Red Cell Reference Laboratory, Clinical Services and Research, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.
Background And Objectives: The LW gene encodes the LW glycoprotein that carries the antigens of the LW blood group system. LW antigens are distinct from D antigen, however, they are phenotypically related and anti-LW antibodies are often mistaken as anti-D. An antibody was detected in an Australian patient of Aboriginal descent who consistently typed as LW(a+b-).
View Article and Find Full Text PDFNovel RHAG allele encoding the Rh(null) phenotype in Brazil.
Transfusion
October 2015
Colsan-Associação Beneficente de Coleta de Sangue, São Paulo, SP, Brazil.
Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.
View Article and Find Full Text PDFA family study of the Chinese Rhnull individual of the regulator type: a novel single missense mutation identified in RHAG gene.
Transfusion
December 2011
Department of Blood Immunology, Institute of Blood Transfusion, Chinese Academy of Medical Sciences, West China Hospital, Sichuan University, Chengdu, Sichuan.
Background: Rh(null) is a rare autosomal recessive disorder, and Rh(null) of the regulator type may result from mutation of the RHAG gene, which encodes RhAG glycoprotein and modulates Rh antigen expression. This study described the molecular genetic analysis of a Chinese Rh(null) family and identified a novel mutation in the RHAG gene.
Study Design And Methods: RBCs from the Rh(null) family members were analyzed for Rh phenotype by standard methods.
RHCE*ceCF encodes partial c and partial e but not CELO, an antigen antithetical to Crawford.
Transfusion
January 2011
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