Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety

Noizat‐Pirenne, F.; Lee, Ketty; Pennec, Pierre‐Yves Le; Simon, Philippe; Kazup, Philippe; Bachir, Dora; Rouzaud, Anne‐Marie; Roussel, M.; Juszczak, G.; Ménanteau, Cècile; Rouger, Philippe; Kotb, Rami; Cartron, Jean‐Pierre; Ansart‐Pirenne, Hélène

doi:10.1182/blood-2002-01-0229

Cited by 136 publications

(194 citation statements)

References 23 publications

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“…Not all red cells designated hr B-by serologic testing are compatible with antibodies produced by patients with differing RH backgrounds. 12,13 Altered or variant e antigen expression is associated with many other RHce alleles that have multiple mutations 13,14 that are found primarily in African ethnic groups. The red cells type as e+, but individuals homozygous for these alleles make alloantibodies with e-like specificities that can appear to be autoantibodies.…”

Section: Variations Of Rhcementioning

confidence: 99%

“…Anti-hr S is a clinically significant antibody and has caused transfusion fatalities. 14 As an additional complication, altered or variant RHCE*ce is often inherited with partial RHD, and examples include DIII, DAU, and DAR (Figure 2). The inheritance of partial D alleles with altered or variant RHCE*ce in patients with SCD puts them at risk for production of antibodies to both RhCE and RhD proteins, a potentially serious complication.…”

Section: Variations Of Rhcementioning

confidence: 99%

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Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease

Chou

Westhoff²

2009

Hematology

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The last decade has witnessed an abundance of information detailing the genetic diversity of the RH locus which has exceeded all estimates predicted by serology. Well over 120 RHD and over 60 different RHCE alleles have been documented, and new alleles are still being discovered. For clinical transfusion medicine, RH genetic testing can now be used to determine RHD zygosity, resolve D antigen status, and detect altered RHD and RHCE genes in individuals at risk for producing antibodies to high-incidence Rh antigens, particularly patients with sickle cell disease (SCD).T ransfusion of patients with sickle cell disease (SCD) represents a significant challenge in clinical transfusion medicine with red blood cell (RBC) alloimmunization a primary and serious complication of transfusions. A major cause of alloimmunization in patients with SCD is the disparate distribution of red cell antigens between donors, who are primarily of European ancestry, and patients with SCD, who are primarily of African ancestry. Management of alloimmunization in SCD has been the subject of much debate, 1,2 and currently there is no standard approach. Over two thirds of alloantibodies formed by patients with SCD have Rh blood group specificities. Many programs transfuse patients with SCD with RBCs that are phenotype-matched for D, C/c, E/e, and K, and some also supply RBCs from African-American donors when possible. Although these approaches reduce the incidence of alloantibody production, patients still become alloimmunized. Genetic analysis of patients who develop antibodies in the face of conventional antigen matching has revealed that these patients carry altered RH alleles. RH Genes and Rh ProteinsTwo genes, RHD and RHCE, lie in close proximity on chromosome 1 and encode 416-amino acid Rh proteins: one encodes the D antigen, and the other encodes CE antigens in various combinations (ce, cE, Ce, or CE) (Figure 1). Each gene has ten exons; they are 97% identical and encode proteins that differ by 32 to 35 amino acids (Figure 1). This contrasts with most blood group antigens, which are encoded by single genes with alleles that differ TRANSFUSION MEDICINE ___________________________________________________________________________________ by only one or a few amino acids. For comprehensive reviews, see Westhoff 3 and Avent. The conventional RH genes shown in Figure 1 are found in all population groups, although with different frequencies. Commercial antibody reagents detect expression of the five principal Rh antigens: D, C, c, E, and e. Variant RHD and RHCE alleles encode Rh proteins with amino acid changes that cannot be distinguished serologically, but can be recognized by the immune system as foreign. Of relevance for transfusion in patients with SCD, RH alleles encoding altered C and e antigens are frequent in African ethnic groups. 5,6 Some patients with SCD are at risk for production of antibodies to both the RhCE and RhD proteins, a serious and potentially life-threatening complication. Variations of RhD

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Section: Variations Of Rhcementioning

confidence: 99%

Section: Variations Of Rhcementioning

confidence: 99%

Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease

Chou

Westhoff²

2009

Hematology

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“…detect the many Rh antigenic variations commonly expressed on erythrocytes from this population. These include the absence of common Rh epitopes termed "high-frequency antigens" (eg, hr B , hr S , Hr B ) 7 and/or expression of novel Rh epitopes called "lowfrequency antigens" (eg, V, VS, Go a ) on erythrocytes. 8 Altered RH alleles encode weak and/or partial expression of D, C, e and, less often, c and E antigens.…”

Section: Introductionmentioning

confidence: 99%

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia

et al. 2017

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Key Points• WES can be applied for precise RH genotyping, detection of new or uncommon variants, and determination of RHD zygosity.• An altered RH genotype is a risk factor for Rh alloimmunization in patients with sickle cell anemia.RH genes are highly polymorphic and encode the most complex of the 35 human blood group systems. This genetic diversity contributes to Rh alloimmunization in patients with sickle cell anemia (SCA) and is not avoided by serologic Rh-matched red cell transfusions.

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“…Antigenic differences are found within common variants and within variant antigens. 3,4 Some partial antigens are found exclusively in the AfroCaribbean population, and carriers of these variant antigens can produce allo-antibodies when exposed to the complete antigen. These antibodies can cause severe delayed hemolytic transfusion reactions (DHTRs), which present specific features in SCD patients.…”

Section: Introductionmentioning

confidence: 99%

Delayed hemolytic transfusion reaction in children with sickle cell disease

Montalembert¹,

Dumont²,

Heilbronner³

et al. 2011

Haematologica

106

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Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety

Cited by 136 publications

References 23 publications

Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease

Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease

Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia

Delayed hemolytic transfusion reaction in children with sickle cell disease

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