Nucleotide deletion in RHCE*cE (907delC) is responsible for a D- - haplotype in Hispanics.

Background: Lack of Cc and Ee expression is associated with either hybrid alleles in which regions of RHCE are replaced by RHD or nucleotide deletion(s) in RHCE. The former have been found as D- - phenotypes, and the latter as Rh(null) when accompanied by deletion of RHD. We investigated RH in eight samples, three presenting as D- -, whose c-E- red blood cell (RBC) typing was discordant with the RHCE genotype that predicted c+E+.

RHCE*ceCF encodes partial c and partial e but not CELO, an antigen antithetical to Crawford.

Background: RH43 (Crawford) is encoded by RHCE*ce with nucleotide changes 48G>C, 697C>G, and 733C>G (RHCE*ceCF). We investigated the Rh antigen expression and antibody specificities in four patients with this allele.

Study Design And Methods: Hemagglutination tests, DNA extraction, polymerase chain reaction (PCR)-restriction fragment length polymorphism, allele-specific PCR, reticulocyte RNA isolation, reverse transcription-PCR cDNA analyses, cloning, and sequencing were performed by standard procedures.

The JAL antigen (RH48) is the result of a change in RHCE that encodes Arg114Trp.

Background: The JAL antigen (Rh48) was discovered more than 30 years ago when it caused hemolytic disease of the fetus and newborn in an African American family. A decade later it was found to cause hemolytic disease of the fetus and newborn in a Caucasian family. The presence of the same low-prevalence antigen in two different ethnic groups is rare, but additional JAL+ in both groups was subsequently identified.

A DOB allele encoding an amino acid substitution (Phe62Ser) resulting in a Dombrock null phenotype.

Background: The gene polymorphisms responsible for the antigens Doa, Dob, Hy, and Joa in the Dombrock (Do) blood group system have been identified. Four different mutations have been reported to cause the Dombrock null [Gy(a-)] phenotype. These include splice mutations, an eight-nucleotide deletion, and insertion of a stop codon.