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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

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More than 180 RHCE alleles have been reported so far including approximately 30 null variants. In some cases, when one RHCE null allele is present, an incorrect antigen zygosity is… Click to show full abstract

More than 180 RHCE alleles have been reported so far including approximately 30 null variants. In some cases, when one RHCE null allele is present, an incorrect antigen zygosity is assumed, which may lead to unexpected familial inheritance of phenotypes. This report describes a novel RHCE null allele in cis with RHD*08N.01 giving rise to an Rh haplotype potentially involved in the generation of an Rh null phenotype.

Keywords: involved generation; haplotype potentially; null phenotype; potentially involved; generation null; rhce

Journal Title: Transfusion
Year Published: 2022

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