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Rh Haplotypes That Make e But Not hr B Usually Make VS
Author(s) -
Reid Marion E.,
Storry Jill R.,
Issitt Peter D.,
Combs Martha Rae,
Beal Connie L.,
Mallory Delores A.,
Blancher Antoine
Publication year - 1997
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1046/j.1423-0410.1997.00041.x
Subject(s) - haplotype , medicine , radiochemistry , chemistry , genetics , biology , gene , genotype
Background and objectives: The Rh phenotypes hr B – and VS+ are both rare in Whites but more common in Blacks. The high‐incidence antigen hr B is present on most red cells that are e+. The presence of VS on red cells is associated with an aberrant expression of e, often called e S . Materials and methods: Using conventional serologic methods, including a monoclonal anti‐hr B ‐like antibody, we studied 65 e+ samples that were apparently hr B –. Results: Of the 65, we found that 59 (91%) were VS+. Recent findings have indicated that in VS+ persons a change from leucine to valine occurs at amino acid 245 of the RHCE ‐encoded polypeptide. While this residue is predicted to lie within the red cell membrane bilayer, the change presumably affects alanine 226 (that is present when e is expressed) in such a way that e S is seen. Conclusions: Our findings suggest that the change from e to e S may result in nonexpression or marked depression of expression of hr B that is, perhaps, an epitope of e. While the molecular basis of the hr B – phenotype is not known, it is unlikely that the leucine‐to‐valine change at residue 245, resulting in the aberrant form of e, explains all hr B – samples. First, hr B – VS+ and hr B – VS– samples must differ. Second, some hr B – VS+ samples are C+, some are C–. Presumably diverse molecular bases are involved in hr B – phenotypes.