The VS and V blood group polymorphisms in Africans: a serologic and molecular analysis

Daniels, Geoff; Faas, B. H. W.; Green, C. A.; Smart, Elizabeth; Wijk, Petra A. Maaskant‐van; Avent, Neil D.; Zondervan, Hans A.; Borne, A. E. G. K. Von Dem; Schoot, C. Ellen van der

doi:10.1046/j.1537-2995.1998.381098440860.x

Cited by 149 publications

(148 citation statements)

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“…8 It is often inherited with an RHCE allele designated ce S (Figure 2), which encodes altered e antigen and a V-VS+ phenotype. 5 The hybrid RHD-CE(3-7)-D linked to RHCE*ce S is referred to as the (C)ce S or r′ S haplotype. Red cells often type strongly C+ with monoclonal reagents and the presence of the altered C goes undetected.…”

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%

“…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. …”

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confidence: 99%

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

Chou

Westhoff²

2009

Hematology

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“…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. The term "partial" describes red cells that lack some common epitopes associated with expression of an antigen.…”

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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“…The D negative phenotype in the white persons is mainly caused by RhD gene deletion, although 14 different D negative RhD allele have been described with low frequencies (1: 1500) in Caucasian persons [6]. In other ethnic groups (especially in black persons), D negativity is frequently caused by the aberrant RhD genes; \ RhDψ (allele frequency 0.0714) and/or (C)cde (allele frequency 0.036) [7][8][9]. Several methods have been described for RhD zygosity determination, such as D antigen density, linkage disequilibrium and associating D negativity with polymorphisms in RHCE.…”

Section: Discussionmentioning

confidence: 99%

Determination of Rhd Zygosity in India: To Prevent Hemolytic Disease of Newborn

Pradhan¹

2015

OGIJ

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The VS and V blood group polymorphisms in Africans: a serologic and molecular analysis

Abstract: It is likely that anti-VS and anti-V recognize the conformational changes created by Val245, but that anti-V is sensitive to additional conformational changes created by Cys336.

Cited by 149 publications

References 17 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

Determination of Rhd Zygosity in India: To Prevent Hemolytic Disease of Newborn

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