Variant <i>RHD</i> Types in Brazilians With Discrepancies in RhD Typing

Campos, Fernanda Carolina Alves; Mota, Márcia Maria Peruzzi Elia da; Aravechia, Maria Giselda; Torres, Kelyan Bertani; Bub, Carolina Bonet; Kutner, José Mauro; Castilho, Lilian

doi:10.1002/jcla.21946

Cited by 10 publications

(12 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Brazil represents one of the most diverse populations in the world, result of centuries of inter‐ethnical crossing of individuals from several continents . This ancestry diversity is a major factor underlying the peculiar distribution of RBC antigen phenotype among Brazilians, especially referring to the RH system, in which both African and European genomes are represented . This miscegenation can be clearly demonstrated by the allele distribution found in the present study, which comprised individuals with weak‐D phenotype.…”

Section: Discussionsupporting

confidence: 48%

“…This finding justifies why UK guidelines determine that patients exhibiting weak results in the D typing routine should be treated as D+ unless they are a female of childbearing age or a patient under chronic transfusion support . However, studies evaluating patients of mixed origin with discrepancies in D typing have shown that the distribution of RH variant alleles significantly differ from that observed among European‐descent individuals, mainly referring to the partial‐D phenotype, but also concerning the weak‐D phenotype . Transposing the recommendation of European transfusion guidelines to this different scenario may cause anti‐D alloimmunization, especially in services with no access to RH genotyping.…”

Section: Introductionmentioning

confidence: 99%

“…9 However, studies evaluating patients of mixed origin with discrepancies in D typing have shown that the distribution of RH variant alleles significantly differ from that observed among European-descent individuals, mainly referring to the partial-D phenotype, but also concerning the weak-D phenotype. 10,11 Transposing the recommendation of European transfusion guidelines to this different scenario may cause anti-D alloimmunization, especially in services with no access to RH genotyping.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

Dezan

Oliveira

Gomes

et al. 2018

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 48%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

Dezan

Oliveira

Gomes

et al. 2018

Clinical Laboratory Analysis

View full text Add to dashboard Cite

show abstract

“…Guidelines recommend the use of two selected anti‐D reagents to determine the D‐status, although DEL will not be detected and this strategy does not distinguish between partial and weak D . The selection of anti‐D reagents should be based on the prevalence and characterization of RHD variants in the population . In our Surinamese cohort, the most clinically relevant variants ( RHD*09.01, RHD*09.02, RHD*09.03.01 ) belonged to the weak D Type 4 cluster and should react weakly (i.e., less than 4+) with the majority of commercially available monoclonal anti‐D's.…”

Section: Discussionmentioning

confidence: 99%

Frequency and characterization ofRHDvariants in serologically D– Surinamese pregnant women and D– newborns

et al. 2019

View full text Add to dashboard Cite

on behalf of the Rhesus in Surinamese Neonates (RheSuN) Study Group BACKGROUND: Numerous RHD variant genes affect the expression of D on the red blood cell surface. In Suriname, 4.3% of pregnant women were D-, ranging from virtually zero to 7% among ethnic groups. Characterization of RHD variants, which are associated with a variable potential to induce anti-D, is of practical clinical importance especially in case of limited access to preventive measures. Here we report on the occurrence of RHD variant genes in Surinamese serologically D-pregnant women and their D-newborns from different ethnic groups. STUDY DESIGN AND METHODS:The RheSuN study is a cross-sectional cohort study in D-pregnant women and their newborns, who visited hospitals in Paramaribo, Suriname, during routine pregnancy care. The presence of RHD variants was investigated using quantitative polymerase chain reaction targeting RHD Exons 5 and 7 and RH-multiplex ligation-dependent probe amplification. RESULTS: SevenRHD variant genes were detected in 35 of 84 women and four RHD variant genes in 15 of 36 newborns. The RHD*03 N.01 and RHD*08 N.01 variants represented 87% of a total of 62 variant genes. Variants were comparably frequent among ethnicities. In four cases genotyping would have changed anti-D prophylaxis policy: one woman with a RHD*01EL.01 variant, not associated with anti-D formation and three D-newborns with RHD*09.01 and RHD*09.03.01 variants, potentially capable of inducing anti-D. CONCLUSION: RHD variants at risk for anti-D are common among serologic D-individuals from African descent in Suriname. While genotyping D-women has limited added value, it may be considered in newborns from D-women. ABBREVIATIONS: qPCR = quantitative polymerase chain reaction; RH-MLPA = RH-multiplex ligation-dependent probe amplification.From the

show abstract

“…On the other hand, there is evidence that DEL RBCs can cause primary immunization of D negative patients through transfusion and can elicit a secondary anti‐D response in sensitized patients . The prevalence of individuals with an altered or negative D antigen expression varies significantly among different ethnic groups . Argentina's current population is the result of the intermixing, that started around 500 years ago, among Native Amerindians, Europeans, Africans and immigrants from other South American countries.…”

mentioning

confidence: 99%

Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina

et al. 2019

Self Cite

View full text Add to dashboard Cite

BACKGROUND A notable RHD variability has been observed in Central Argentina's current population attributed to the intermixing of different ethnic groups. The Northwestern region of the country is characterized by a markedly Amerindian genetic contribution. In this sense, the definition of the RHD polymorphism in individuals from this area was lacking. STUDY DESIGN AND METHODS A total of 757 donors from Northwestern Argentina, with D negative C and/or E positive (n = 526), and D variant (n = 231) phenotype defined by standard hemmaglutination tube techniques were genotyped using in‐house PCR strategies, commercial SNP arrays and Sanger sequencing. RESULTS Among D negative C and/or E positive samples, RHD null (15.40%) and DEL alleles (3.23%) were identified. One unreported SNP c.1001T>A responsible for a null allele was found. RHD*01N.75 (4.18%) and RHD*DEL43 (2.66%) were the most prevalent variants following RHD*03N.01 (8.75%). The characterization of serologic weak D phenotypes showed that RHD*weak D type 1, 2, and 3 variants were found only in 37.24% of the samples, whereas RHD*weak D type 93 was the most prevalent allele (25.11%). Also, a previously unreported missense variation c.764G>A was identified. CONCLUSIONS A RHD genotyping strategy for patients and donors from Northwestern Argentina must consider the detection of the frequently found RHD*01N.75, RHD*DEL43, and RHD*weak D type 93 variants. Taking into account that RHD*DEL43 has scarcely been found in North Americans and Europeans whereas RHD*01N.75 and RHD*weak D type 93 have never been described in populations other than Argentineans, these RHD variants could be attributed to Native Amerindian genetic influence.

show abstract

Variant RHD Types in Brazilians With Discrepancies in RhD Typing

Cited by 10 publications

References 20 publications

High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

Frequency and characterization ofRHDvariants in serologically D– Surinamese pregnant women and D– newborns

Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina

Contact Info

Product

Resources

About