The low-prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD*DOL.
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.


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*DOL2. 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.
Laboratory of Immunochemistry, New York Blood Center, New York, New York 10065, USA. mreid@nybloodcenter.org
Marion E
ME
Reid
Christine
C
Halter Hipsky
Kim
K
Hue-Roye
Gail
G
Coghlan
Coral
C
Olsen
Christine
C
Lomas-Francis
D000483:Alleles; D000941:Antigens / Q000235:genetics; D005787:Gene Frequency; D023061:Gene Order / Q000502:physiology; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000502:physiology; D015995:Prevalence; D020033:Protein Isoforms / Q000235:genetics; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
D000941:Antigens; D020033:Protein Isoforms; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen