A novel RHCE*ce 48C, 733G allele with Nucleotide 941C in Exon 7 encodes an altered red blood cell e antigen: RHCE*ce 48C, 733G, 941C ENCODES A PARTIAL e

BACKGROUND: Several RHCE*ce alleles have in common a 733C > G (Leu245Val) change. Some encode an altered expression of e on red blood cells (RBCs) and individuals with such RBCs can make e-like alloantibodies. The identification of an apparent anti-hrB in the serum of an E-e+ African American patient prompted us to analyze her DNA, which revealed a novel RHCE*ce allele. We also screened blood samples from African Americans to determine the frequency of the novel allele. STUDY DESIGN AND METHODS: Hemagglutination tests and molecular analyses were performed by standard procedures. RESULTS: Analysis of the proband's DNA revealed RHCE*ce 48C/C, 733G/G, 941T/C, and 1006G/T. Of 272 samples from African Americans, 257 were RHCE*941T/T (wild type), and 15 (6%) were RHCE*941T/C. Of these 15, 14 were RHCE*ce/ce, 10 with 733C/G and four with 733G/G, and one was RHCE*ce/cE, 733C/G. Cloning experiments confirmed the Nucleotide 941 change and showed that 48C, 733G, 941C, and 1006T were carried on the same allele. RBCs from the 15 samples carrying the RHCE*941C variant typed V/VS+ and hrB+W. CONCLUSION: This study identifies a novel allele, RHCE*ce 48C, 733G, 941C, 1006T which is predicted to encode 16Cys, 245Val, 314Ala, and 336CyS and was shown to encode c, V/VS, and an altered expression of e and hrB antigens. The clinical significance of the antibody found in the proband is not established because E+e- RBC components were transfused to the patient. The novel RHCE*ce 48C, 733G, 941C, 1006T allele was present in 5.5% of samples from African Americans and thus, in this small cohort, it had a frequency of 0.028.