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The low‐prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD * DOL
Author(s) -
Reid Marion E.,
Halter Hipsky Christine,
HueRoye Kim,
Coghlan Gail,
Olsen Coral,
LomasFrancis Christine
Publication year - 2013
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.1537-2995.2012.03754.x
Subject(s) - allele , antigen , rh blood group system , biology , phenotype , genotype , genetics , microbiology and biotechnology , antibody , gene
BACKGROUND: STEM (RH49) is a low‐prevalence antigen in the Rh blood group system. A scarcity of anti‐STEM has precluded extensive study of this antigen. We report that two alleles with a RHCE * ce818C>T change encode a partial e, and a hr S −, hr B +, STEM+ phenotype and that both alleles are frequently in cis to RHD * DOL1 or RHD * DOL2 . STUDY DESIGN AND METHODS: Blood samples were from donors and patients in our collections. Hemagglutination, DNA, and RNA testing was performed by standard techniques. RESULTS: Fourteen STEM+ samples were heterozygous RHCE * ce818C/T : six had RHCE * ceBI and eight had a novel allele, RHCE * ceSM . Eleven were heterozygous for RHD * DOL1 or RHD * DOL 2. Eleven samples, previously typed STEM−, had RHCE * ce818C/C (consensus nucleotide). RBCs from informative STEM+ samples were e+/− hr S − hr B +. One person who was heterozygous RHCE * ceBI and RHCE * cE had an anti‐e‐like antibody in her plasma, and one person, who was hemizygous for RHD * DOL2, had anti‐D in her plasma. CONCLUSIONS: We show that two alleles with a RHCE * ce818C>T change ( RHCE * ceBI and RHCE * ceSM ) encode a hr S − hr B + STEM+ phenotype. In addition, both alleles are frequently in cis to RHD * DOL1 or RHD * DOL2 and RHCE * ceBI encodes a partial e antigen. In the small cohort of samples tested, RHD * DOL invariably traveled with RHCE * ce818T . Our study also confirmed the presumption that RHD * DOL2 , like RHD * DOL1 , encodes a partial D antigen and the low‐prevalence antigen DAK.