title: Molecular background of RH in Bastiaan, the RH:-31,-34 index case, and two novel RHD alleles.
abstract: Anti-hr(B) (-RH31) and anti-Hr(B) (-RH34) were found nearly 40 years ago in the serum of a South African woman. The anti-hr(B) was revealed after adsorption with DcE/DcE red blod cells (RCBs). Numerous anti-hr(B), in the absence of anti-Hr(B), have since been identified. We obtained a sample of blood from this index case (Bastiaan) and report the molecular basis of her D+C-E-c+e+/-, V-VS+Hr+hr(S)+hr(B)-Hr(B)- phenotype as well as results of testing her RBCs using currently available regents. We tested a cohort of African Americans to estimate the frequency of the RHCE*ce 48C,733G,1006T allele, and in addition found two novel RHD alleles. Hemagglutination tests and DNA analyses were performed by standard methods. Analyses revealed homozygosity for RHCE*ce 48C,733G,1006T in Bastiaan. RBCs from Bastiaan were strongly agglutinated by three commercial anti-e reagents. Testing RBCs from people homozygous for RHCE*ce 48C,733G,1006T showed that anti-e MS16, MS17, and MS63 were weakly reactive or non reactive, MS21 was strongly reactive, and HIRO38, HIRO41, and HIRO43 were non reactive. Results show that Bastiaan has RHD*DIIIa150C and RHD*DIIIa-CE(4-7)-D. Tests on 605 samples from random African Americans revealed a frequency of 0.036 for RHCE*ce 48C,733G,1006T and revealed two novel alleles: RHD*186T and RHD*DIIIa150C. The Bastiaan phenotype is encoded by RHD*DIIIa150C-RHCE*ce 48C,733G,1006T and RHD*DIIIa-CE(4-7)-D-RHCE*ce 48C,733G,1006T ; thus, this genotype is the gold standard for the hr(B)-Hr(B)-phenotype. The r'(s) complex encodes VS, which explains why most hr(B)-RCBs are VS+.
authors.affiliation: Laboratory of Immunochemistry, New York Blood Center, New York, NY 10065, USA.
authors.forename: M E
authors.initials: ME
authors.lastname: Reid
authors.forename: C H
authors.initials: CH
authors.lastname: Hipsky
authors.forename: R W
authors.initials: RW
authors.lastname: Velliquette
authors.forename: C
authors.initials: C
authors.lastname: Lomas-Francis
authors.forename: K
authors.initials: K
authors.lastname: Larimore
authors.forename: C
authors.initials: C
authors.lastname: Olsen
mesh_terms: D000327:Adsorption; D001741:Black or African American / Q000235:genetics*; D000483:Alleles; D000911:Antibodies, Monoclonal / Q000276:immunology; D015331:Cohort Studies; D004912:Erythrocytes / Q000737:chemistry / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006386:Hemagglutination Tests; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000097:blood / Q000235:genetics* / Q000276:immunology; D017422:Sequence Analysis, DNA
chemical_list: D000911:Antibodies, Monoclonal; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System