RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce-phenotype, and is associated with discordant RHD zygosity.

Background: RHCE*ceAG has the nucleotide change c.254C>G, which encodes p.Ala85Gly associated with altered expression of e antigen.

Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease.

Background: Red cell (RBC) blood group alloimmunization remains a major problem in transfusion medicine. Patients with sickle cell disease (SCD) are at particularly high risk for developing alloantibodies to RBC antigens compared to other multiply transfused patient populations. Hemagglutination is the classical method used to test for blood group antigens, but depending on the typing methods and reagents used may result in discrepancies that preclude interpretation based on serologic reactivity alone.

SC*994C>T causes the Sc(null) phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3.

Antigens in the SC blood group system are expressed by the human erythrocyte membrane-associated protein (ERMAP).Two molecular bases have been reported for the Sc,un phenotype:SC*307del2 and SC*994C>T. We report our investigation of the molecular background of five Sc,n1 individuals from the Pacific Islands and describe the successful transfusion of Sc3+ blood to a patient with anti-Sc3 in her plasma.

A review of the JR blood group system.

The JR blood group system (ISBT 032) consists of one antigen,Jra, which is of high prevalence in all populations. The rare Jr(a-) phenotype has been found mostly in Japanese and other Asian populations, but also in people of northern European ancestry, in Bedouin Arabs, and in one Mexican. Anti-Jra has caused transfusion reactions and is involved in hemolytic disease of the fetus and newborn.

RHCE*ceMO is frequently in cis to RHD*DAU0 and encodes a hr(S) -, hr(B) -, RH:-61 phenotype in black persons: clinical significance.

Background: RHCE*ceMO has nucleotide changes 48G>C and 667G>T, which encode, respectively, 16Cys and 223Phe associated with altered expression of e antigen. RHD*DAU0 has Nucleotide 1136C>T, which encodes 379Met associated with normal levels of D. We compiled serologic and DNA testing data on samples with RHCE*ceMO to determine the red blood cell (RBC) antigen expression, antibody specificity, RHD association, and the prevalence in African-American persons.

Alleles of the LAN blood group system: molecular and serologic investigations.

Background: Anti-Lan has been implicated in hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. The LAN blood group system is encoded by ABCB6, whose gene product, ABCB6, belongs to the ATP-binding cassette (ABC) efflux transporter superfamily. The purpose of this study was to characterize additional alleles by analyzing DNA from 14 (13 unrelated) subjects whose red blood cells were serologically defined as Lan-, Lan+(w) /-, or Lan+(w) .

Emily Cooley lecture 2012: Emily Cooley and techniques that have been applied to characterize DO and JR blood groups.

Emily Cooley was a well-respected medical technologist and morphologist with a remarkable skill set. She was highly regarded both professionally and personally. The "Emily Cooley Lectureship and Award" was established to honor her in particular and medical technologists in general.

Three novel alleles in the Kell blood group system resulting in the Knull phenotype and the first in a Native American.

Background: Antibodies to Kell antigens can be clinically important but only limited data are published regarding anti-Ku. Missense nucleotide changes in KEL account for the numerous Kell antigens, the K(mod) phenotype, and even the K(null) phenotype.

Study Design And Methods: DNA and RNA were extracted from white blood cells and polymerase chain reaction-based assays, cloning, and sequencing were done using standard protocols.

Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETI.

Background: The numerous antigens in the Kell blood group system result from missense nucleotide changes in KEL. Antibodies to antigens in this system can be clinically important. We describe six probands whose plasma contained antibodies to high-prevalence Kell antigens and discuss their relationship.

The JR blood group system: identification of alleles that alter expression.

Background: The ABCG2 gene encodes antigens of the JR blood group system. Red blood cells (RBCs) from individuals homozygous for ABCG2 null alleles are nonreactive with polyclonal and monoclonal anti-Jr(a) . However, some RBCs have been defined as Jr(a+(W) /-) or Jr(a-), particularly when tested with polyclonal anti-Jr(a) .

The JR blood group system (ISBT 032): molecular characterization of three new null alleles.

Background: Jr(a) (ISBT 901005) is a high-prevalence antigen unassigned to a blood group system. People lacking this antigen have been found in all populations studied but most commonly in Asians. Two recent reports established that ABCG2-null alleles encode the Jr(a-) phenotype and these studies provided the impetus to study other Jr(a-) individuals.

RHCE*ceTI encodes partial c and partial e and is often in cis to RHD*DIVa.

Background: In the Rh blood group system, variant RhD and RhCE express several partial antigens. We investigated RH in samples with partial DIVa that demonstrated weak and variable reactivity with anti-C.

Study Design And Methods: Standard hemagglutination techniques, polymerase chain reaction-based assays, and RH sequencing were used.

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.

ABCG2 null alleles define the Jr(a-) blood group phenotype.

The high-incidence erythrocyte blood group antigen Jr(a) has been known in transfusion medicine for over 40 years. To identify the gene encoding Jr(a), we performed SNP analysis of genomic DNA from six Jr(a-) individuals. All individuals shared a homozygous region of 397,000 bp at chromosome 4q22.

DIII Type 7 is likely the original serologically defined DIIIb.

Background: Due to their homology, close proximity, and opposite orientation, RHD and RHCE can exchange nucleotides giving rise to variant alleles. Some of these variants encode the so-called partial phenotypes. The DIII partial D category has been subdivided into DIIIa, DIIIb, DIIIc, DIII Type 4, DIII Type 6, and DIII Type 7.

Nucleotide deletion in RHCE*cE (907delC) is responsible for a D- - haplotype in Hispanics.

Background: Lack of Cc and Ee expression is associated with either hybrid alleles in which regions of RHCE are replaced by RHD or nucleotide deletion(s) in RHCE. The former have been found as D- - phenotypes, and the latter as Rh(null) when accompanied by deletion of RHD. We investigated RH in eight samples, three presenting as D- -, whose c-E- red blood cell (RBC) typing was discordant with the RHCE genotype that predicted c+E+.

Population genetics of GYPB and association study between GYPB*S/s polymorphism and susceptibility to P. falciparum infection in the Brazilian Amazon.

Background: Merozoites of Plasmodium falciparum invade through several pathways using different RBC receptors. Field isolates appear to use a greater variability of these receptors than laboratory isolates. Brazilian field isolates were shown to mostly utilize glycophorin A-independent invasion pathways via glycophorin B (GPB) and/or other receptors.

DNA-based methods in the immunohematology reference laboratory.

Although hemagglutination serves the immunohematology reference laboratory well, when used alone, it has limited capability to resolve complex problems. This overview discusses how molecular approaches can be used in the immunohematology reference laboratory. In order to apply molecular approaches to immunohematology, knowledge of genes, DNA-based methods, and the molecular bases of blood groups are required.

Human blood group genes 2010: chromosomal locations and cloning strategies revisited.

Thirty human blood group systems are now recognized. Corresponding genes have been cloned and characterized for all of the systems and localized to single cytogenetic bands on 14 autosomes and the X chromosome. In this review, we summarize this information, highlighting the most recently defined blood group system (Rh-associated glycoprotein) and the developing understanding of the P1 system and the complex molecular basis for its phenotypes.

RHCE*ceCF encodes partial c and partial e but not CELO, an antigen antithetical to Crawford.

Background: RH43 (Crawford) is encoded by RHCE*ce with nucleotide changes 48G>C, 697C>G, and 733C>G (RHCE*ceCF). We investigated the Rh antigen expression and antibody specificities in four patients with this allele.

Study Design And Methods: Hemagglutination tests, DNA extraction, polymerase chain reaction (PCR)-restriction fragment length polymorphism, allele-specific PCR, reticulocyte RNA isolation, reverse transcription-PCR cDNA analyses, cloning, and sequencing were performed by standard procedures.

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

Background: Several RHCE*ce alleles have in common a 733C>G (Leu245Val) change. Some encode an altered expression of e on red blood cells (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.

Absence of DOMR, a new antigen in the Dombrock blood group system that weakens expression of Do(b) , Gy(a) , Hy, Jo(a) , and DOYA antigens.

Background: The Dombrock (Do) blood group system consists of six distinct antigens: Do(a) , Do(b) , Gy(a) , Hy, Jo(a) , and DOYA. Our finding of a pregnant patient whose red blood cells (RBCs) were Hy+ but whose serum contained an apparent alloanti-Hy suggested the presence of a seventh antigen and prompted this study.

Study Design And Methods: Standard hemagglutination and polymerase chain reaction-based methods were used throughout.

New antigen in the Dombrock blood group system, DOYA, ablates expression of Do(a) and weakens expression of Hy, Jo(a), and Gy(a) antigens.

Background: The Dombrock (Do) blood group system consists of five distinct antigens: Do(a), Do(b), Gy(a), Hy, and Jo(a). Our finding of a patient whose plasma contained a Do-related alloantibody suggested the presence of a sixth antigen.

Study Design And Methods: Standard hemagglutination, flow cytometry, and polymerase chain reaction (PCR)-based methods were used throughout.

DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications.

Background: The partial D phenotype DIIIa was originally reported to be associated with 455A>C in Exon 3, 602C>G in Exon 4, and 667T>G in Exon 5. Other alleles with these changes were subsequently identified and designated DIII Types 5, 6, and 7, as they had additional alterations. The observation that DNA samples associated with the DIIIa phenotype had more changes than those originally reported motivated us to reanalyze the DIIIa probands (BP and DJ) from the original study.