The low‐prevalence Rh antigen STEM (RH49) is encoded by two different RHCE*ce818T alleles that are often in cis to RHD*DOL. Issue 3 (28th June 2012)

• Record Type: Journal Article
• Authors: Reid, Marion E.; Halter Hipsky, Christine; Hue‐Roye, Kim; Coghlan, Gail; Olsen, Coral; Lomas‐Francis, Christine
• Is Part Of: Transfusion. Volume 53:Issue 3(2013)
• Page Start: 539
• Page End: 544
• Publication Date: 2012-06-28
• Subjects: Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; Blood Group Antigens -- Periodicals; Blood Preservation -- Periodicals; Blood Transfusion -- Periodicals; 615
• DOI: 10.1111/j.1537-2995.2012.03754.x
• Languages: English
• ISSNs: 0041-1132

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>BACKGROUND:</bold> 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 <italic>RHCE</italic>*<italic>ce818C>T</italic> change encode a partial e, and a hr<sup>S</sup>−, hr<sup>B</sup>+, STEM+ phenotype and that both alleles are frequently in cis to <italic>RHD</italic>*<italic>DOL1</italic> or <italic>RHD</italic>*<italic>DOL2</italic>.</p> <p> <bold>STUDY DESIGN AND METHODS:</bold> Blood samples were from donors and patients in our collections. Hemagglutination, DNA, and RNA testing was performed by standard techniques.</p> <p> <bold>RESULTS:</bold> Fourteen STEM+ samples were heterozygous <italic>RHCE</italic>*<italic>ce818C/T</italic>: six had <italic>RHCE</italic>*<italic>ceBI</italic> and eight had a novel allele, <italic>RHCE</italic>*<italic>ceSM</italic>. Eleven were heterozygous for <italic>RHD</italic>*<italic>DOL1</italic> or <italic>RHD</italic>*<italic>DOL</italic>2. Eleven samples, previously typed STEM−, had <italic>RHCE</italic>*<italic>ce818C/C</italic> (consensus nucleotide). RBCs from informative STEM+ samples were e+/− hr<sup>S</sup>− hr<sup>B</sup>+. One person who was heterozygous <italic>RHCE</italic>*<italic>ceBI</italic> and <italic>RHCE</italic>*<italic>cE</italic> had an anti‐e‐like antibody in her plasma, and one person, who was hemizygous for <italic>RHD</italic>*<italic>DOL2, </italic> had anti‐D in her plasma.</p> <p> <bold>CONCLUSIONS:</bold> We show that two alleles with a <italic>RHCE</italic>*<italic>ce818C>T</italic> change (<italic>RHCE</italic>*<italic>ceBI</italic> and <italic>RHCE</italic>*<italic>ceSM</italic>) encode a hr<sup>S</sup>− hr<sup>B</sup>+ STEM+ phenotype. In addition, both alleles are frequently in cis to <italic>RHD</italic>*<italic>DOL1</italic> or <italic>RHD</italic>*<italic>DOL2</italic> and <italic>RHCE</italic>*<italic>ceBI</italic> encodes a partial e antigen. In the small cohort of samples tested, <italic>RHD</italic>*<italic>DOL</italic> invariably traveled with <italic>RHCE</italic>*<italic>ce818T</italic>. Our study also confirmed the presumption that <italic>RHD</italic>*<italic>DOL2</italic>, like <italic>RHD</italic>*<italic>DOL1</italic>, encodes a partial D antigen and the low‐prevalence antigen DAK.</p> </abstract>