New RHCE variant alleles encoding the D– – phenotype

• DOI: 10.1111/trf.12404
• Publication Date: 2013-09-11T10:53:44Z
• Authors: Gorka Ochoa‐Garay; Joann M. Moulds; Jacqueline Cote; Lesley Kresie; Adirane Garaizar; Mindy Goldman; Polly Wynn
• Keywords: Null allele; genomic DNA

Background Variant alleles that do not produce RhCE antigens are rare. Consequently, they pose a challenge to transfusion when found in alloimmunized patients and make blood units valuable donors. Study Design Methods Five index cases their relatives were studied by both serologic molecular techniques. Genomic DNA was subjected microarray genotyping, sequencing, exon scanning, and/or copy number determination assays identify the RHCE allele(s) responsible for D+ C− c− E– e− (D– –) phenotype. Results The five apparent D– – phenotypes confirmed methods. Three of them contained unreported ‐null alleles, namely, * Ce ‐ D (3‐9)‐ , RHCE*Ce87_93insT cE 221 A . Conclusion Molecular analysis allows identification new variants. Conversely, detection described variants facilitates confirmation donors, helping improve safety.