A novel RHCE*ce 48C, 733G allele with Nucleotide 941C in Exon 7 encodes an altered red blood cell e antigen

Abstract

Background-Several RHCE*ce alleles have in common a 733C>G (Leu245Val) change. Some encode an altered expression of e on RBCs and individuals with such RBCs can make e-like alloantibodies. The identification of an apparent anti-hr B in the serum of an E-e+ African American patient prompted us to analyze her DNA, which revealed a novel RHCE*ce allele. We also screened blood samples from African Americans to determine the frequency of the novel allele.

Relevance of RH variants in transfusion of sickle cell patients

“…Other RHCE*ce alleles encoding partial antigens have been described in individuals of African descent. The RHCE*ceCF allele encodes both partial c and partial e, and RHCE*ce 48C, 733G with nucleotide 941C in exon 7 encodes partial e [8–10]. The RHCE*ce(S)(340) allele with a JAL+ phenotype, known to encode partial e, has been shown also to cause altered expression of the c antigen allowing the patient to make an allo anti‐c [11].…”

Rh and RHAG Blood Group Systems

“…RHCE * ce encoding Trp16Cys, Leu245Val (typical of VS), Val314Ala, and Gly336Cys (typical of d(C)ce s ) encoded c, VS (though the V type was not clear), and variant e and hr B [420] . This allele was found in 5.5% of African Americans.…”

A comparison of methods for the detection of the r′s haplotype

“…The r′ s haplotype Type 2 encodes a very weak C and does not produce Rh42 . If present in a homozygous state or if the allele in trans does not code for the antigen, there is a high risk of producing clinically significant alloantibody(ies) when exposed to blood products carrying common Rh phenotypes . When this occurs, identifying the fine specificity of the antibody(ies) produced and subsequently providing RBCs matched for the complex Rh protein variant are necessary.…”

“…Until recently, the r′ s haplotype was undetected in a patient until unexplained Rh alloimmunization occurred (e.g., C+ person with anti‐C; e+ with “e‐like” antibody). Other SNPs resulting in partial Rh antigens are common in African‐Americans and can also go undetected . Molecular genotyping of the RH genes has greatly improved the capacity for detecting RH variants and, therefore, reducing the risk associated with blood transfusion .…”

“…Other SNPs resulting in partial Rh antigens are common in African‐Americans and can also go undetected . Molecular genotyping of the RH genes has greatly improved the capacity for detecting RH variants and, therefore, reducing the risk associated with blood transfusion . Two high‐throughput molecular platforms for RBC blood group genotyping are currently used in laboratories within the United States: HEA (BioArray Solutions‐Immucor) and IDCORE XT (Progenika‐Grifols, Emeryville, CA).…”