Identification of six new RHCE variant alleles in individuals of diverse racial origin. Issue 1 (4th October 2015)

• Record Type: Journal Article
• Authors: Goldman, Mindy; Cemborain, Arantxa; Cote, Jacqueline; El Hamss, Rachid; Flower, Robert L.; Garaizar, Adirane; Garcia‐Sanchez, Felix; Hyland, Catherine A.; Kalvelage, Monica; Londero, Donatella; Lopez, Genghis H.; Revelli, Nicoletta; Rodriguez‐Wilhelmi, Pablo; Villa, Antonietta; Ochoa‐Garay, Gorka
• Is Part Of: Transfusion. Volume 56:Issue 1(2016:Feb.)
• Page Start: 244
• Page End: 248
• Publication Date: 2015-10-04
• Subjects: Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; Blood Group Antigens -- Periodicals; Blood Preservation -- Periodicals; Blood Transfusion -- Periodicals; 615
• DOI: 10.1111/trf.13357
• Languages: English
• ISSNs: 0041-1132

Abstract

Abstract : BACKGROUND: The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles. STUDY DESIGN AND METHODS: Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele‐specific polymerase chain reaction. RESULTS: Six new RHCE alleles were identified, namely, RHCE*cE84A, RHCE*ce202G, RHCE*ce307T, RHCE*Ce377G, RHCE*ce697G, 712G, 733G, 744C, and RHCE*Ce733G . CONCLUSION: While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.