Variant genotypes associated with reduced expression of RhCE antigens among Brazilian blood donors

Abstract

Background The genetic diversity of the RHCE gene locus has been explored in diverse populations of different racial backgrounds. Data referring to the diversity of RHCE encoding weakened expression of C, c, E, and e in multiethnic populations is still incomplete. Methods Samples from Brazilian blood donors presenting reduced expression of C, c, E, or e on gel method were selected for the study. All exons and flanking introns of RHCE were genotyped though direct Sanger sequencing for the included donors. Results Sixty‐six donors were included: 23 with weak C, 22 with weak c, 6 with weak E, 14 with weak e, and 1 with weak c and E. Among the samples with weak C, the following altered RH*C were encountered: RHCE*CeMA (n = 3), RHCE*Ce941C (n = 1), and RHCE*CeVA (n = 1). RHD*D‐CE(4–7)‐D was detected in six cases, RHCE*CE was presumably present in five cases, and seven cases were unexplained. Two altered alleles underlay the weak c phenotype: RHCE*ceJAL (n = 20) and RHCE*ce340T (n = 2), and two altered RHCE justified weak e: RHCE*ceMO (n = 6) and RHCE*ceJAL (n = 8). Three variant RHCE were associated with weak E: RHCE*cEJU (n = 4), RHCE*cE382C (n = 1), and RHCE*cEIV (n = 1). The RHCE*cE905A justified one case of weak c and E. Conclusion We describe the distribution of RHCE variants found in association with weak expression of C, c, E, and e in blood donors of multiethnic origin, which differs in comparison to that previously reported for people of African or Caucasian descent.

Genotype analysis to clarify RhD variants in discrepant samples of Chilean population

“…Their frequencies vary significantly by race and ethnicity (13). African descendants and individuals of mixed ancestry are more likely to carry RHCE variants than Caucasians and Asians (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27). Using both in-house and commercial genotyping assays, researchers have investigated the diversity and frequency of RH alleles in blood samples and/or subjects with sickle cell disease at high risk of alloimmunization (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28).…”

“…African descendants and individuals of mixed ancestry are more likely to carry RHCE variants than Caucasians and Asians (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27). Using both in-house and commercial genotyping assays, researchers have investigated the diversity and frequency of RH alleles in blood samples and/or subjects with sickle cell disease at high risk of alloimmunization (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28). The reported frequencies of RHCE variant alleles are inconsistent among reports, likely due to several reasons, including differences in study design, molecular strategies used for RHCE characterization, and population ethnicity.…”