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Four novel silenced RHCE

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T he ISBT (International Society of Blood Transfusion) documents more than 100 RHCE variant alleles. More than 20 encode RHCE null phenotypes with loss of expression of Cc/Ee antigens, most… Click to show full abstract

T he ISBT (International Society of Blood Transfusion) documents more than 100 RHCE variant alleles. More than 20 encode RHCE null phenotypes with loss of expression of Cc/Ee antigens, most often recognized in samples homozygous for the mutant allele and presenting with a Dred blood cell (RBC) phenotype. RHCE null alleles result from diverse molecular mechanisms including insertions or deletions, nonsense mutations, splice site changes, and replacement of RHCE with the corresponding regions of RHD. We report here four samples referred for investigation—three with discrepant Rh serological and RH molecular results and one for complete RH genotyping with D+ RBC phenotype and anti-D in the plasma.

Keywords: rhce; novel silenced; four novel; silenced rhce

Journal Title: Transfusion
Year Published: 2018

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