Classification of major and minor blood group antigens in the Kuwaiti Arab population

Ameen, Reem; Shemmari, Salem Al; Harris, S.D.; Teramura, Gayle; Delaney, Meghan

doi:10.1016/j.transci.2020.102748

Cited by 7 publications

(7 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Rest of the variants were of cases in which RHD could not be genotyped by the software, likely due to the lack of a known exon pattern of the data. RHCE*ceVS variants with RHCE*733G in exon 5 were reported at higher frequencies than what has been reported in Kuwaitis (5.7%) [24]. It was interesting to see that most of these samples were serologically phenotyped as 1+, including the sample with RHDψ .…”

Section: Discussionmentioning

confidence: 74%

See 1 more Smart Citation

Molecular blood group screening in Omani blood donors

et al. 2021

View full text Add to dashboard Cite

Background and Objectives Blood group genotyping has been used in different populations. This study aims at evaluating the genotypes of common blood group antigens in the Omani blood donors and to assess the concordance rate with obtained phenotypes. Material and Methods Blood samples from 180 Omani donors were evaluated. Samples were typed by serological methods for the five blood group systems MNS, RH (RHD/RHCE), KEL, FY and JK. Samples were genotyped using RBC‐FluoGene vERYfy eXtend kit (inno‐train©). Predicted phenotypic variants for 70 red blood cell antigens among the MNS, RH (RHD/RHCE), KEL, FY, JK, DO, LU, YT, DI, VEL, CO and KN blood group systems were assessed. Results Simultaneous phenotype and genotype results were available in 130 subjects. Concordance rate was >95% in all blood group systems with exception of Fy(b+) (87%). Homozygous GATA‐1 mutation leading to erythroid silencing FY*02N.01 (resulting in the Fy(b‐)ES phenotype) was detected in 81/112 (72%) of genotyped samples. In addition, discrepant Fyb phenotype/genotype result was obtained in 14/112 samples; 13 of which has a heterozygous GATA‐1 mutation and one sample with a wild GATA genotype. D and partial e c.733C>G variants expressing the V+VS+ phenotype were found in 22/121 (18.2%) and 14/120 (11.7%) of the samples, respectively. Di(a‐b+), Js(a‐b+), Yt(a+b‐) and Kn(a+b‐) genotype frequencies were 99.4%, 95.8%, 91.9% and 97.7%, respectively. Conclusion In conclusion, we report a high frequency of FY*02N.01 allele due to homozygous c.‐67T>C GATA‐1 single‐nucleotide variation. This is the first study reporting the detailed distribution of common and rare red cell genotypes in Omani blood donors.

show abstract

Section: Discussionmentioning

confidence: 74%

“…Our results reveal that homozygous GATA‐1 SNV resulting in a Fy(a‐b‐) phenotype is common among Omanis, and reached a frequency of 72%. This mutation is reported at higher frequencies compared to Kuwaitis (15.2%) [24]. This frequency is also higher compared to what has been described in donors of other Arabic descents (2%) [23].…”

Section: Discussionmentioning

confidence: 86%

Molecular blood group screening in Omani blood donors

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Putative positive selection for the Fy ES allele following African admixture in the AP is also supported by a relatively high frequency of the Duffy negative phenotype, defined as the serological absence of Duffy antigens, across the AP 17–21 , most notably in Oman 22 . While the Duffy negative phenotype has been linked to P. vivax resistance, little documentation exists regarding the historical prevalence of malaria in Oman or other AP countries.…”

Section: Introductionmentioning

confidence: 97%

Adaptive admixture atACKR1(the Duffy locus) may have shapedPlasmodium vivaxprevalence in Oman

Haffener,

Al-Riyami,

Al-Zadjali

et al. 2024

Preprint

View full text Add to dashboard Cite

Malaria in humans is largely caused by two divergent species of Plasmodium parasites, P. vivax and P. falciparum, both of which have driven the spread of protective alleles in human populations. Notably, an erythrocyte-specific Duffy null allele (FyES) confers resistance to P. vivax malaria and has been identified as a target of strong, recent positive selection in multiple African admixed populations. Here, we evaluate evidence for selection via adaptive admixture in Oman, where compared to neighboring countries, P. vivax has recently been less common. Genetic ancestry inference using whole genome sequence data from 100 Omanis suggests 9.8% (95% CI: 7.3-12.2%) of their genetic ancestry is shared with east Africa. At the Duffy locus, we find a high frequency of FyES and an increase to 76% African ancestry. Comparing with blood group serology for the same individuals, we identify an additional Duffy-null allele that is rare but present across multiple Arabian Peninsula (AP) populations. Finally, we estimate the selection coefficient at FyES as 0.031 (95% CI: 0.029-0.034) with likely introduction at least 59 generations ago, older than estimates in other African admixed populations. Although we also observe higher frequency of some P. falciparum-protective alleles in Oman than in other AP populations, African ancestry is not enriched indicating a lack of evidence for adaptive admixture driven by P. falciparum selective pressure. Together, our analyses suggest that Oman's long history with east African populations resulted in early introduction and selection for Duffy null alleles and may have influenced the prevalence of P. vivax in the region.

show abstract

“…Only a limited number of studies have investigated the prevalence of blood group antigens in Middle Eastern populations, primarily focusing on the ABO and RH systems along with few other clinically significant minor blood groups (13), (14), (15), (16), (17). However, these studies have been limited by their use of standard serological testing or medium throughput molecular typing techniques, and therefore there is a paucity of a comprehensive population-specific molecular blood group profile.…”

Section: Introductionmentioning

confidence: 99%

A comprehensive characterization of blood group antigen variants in the Middle Eastern population genomes - Insights into genetic epidemiology

Rophina,

Pandhare,

Scaria

2023

Preprint

View full text Add to dashboard Cite

BackgroundThe Middle Eastern population is characterized by increased prevalence of various Mendelian disorders owing to increased rates of consanguinity. Especially in disease conditions which require chronic transfusion support, it becomes important to know the blood group characteristics of potential donors to increase the likelihood of transfusion success. As there prevails a gap in knowledge about the population specific overall blood antigen profiles, this study seeks to utilize next generation sequencing datasets to unravel the comprehensive landscape of clinically significant minor blood group alleles in the middle eastern population.MethodsThis study utilizes the genetic variation data from a range of public datasets including the Greater Middle East Variome, the Qatar genome and exomes and the Iranome datasets to estimate the genotypic and phenotypic frequencies of blood group alleles in the Middle Easterners. The estimated frequencies were duly compared with major global populations to identify significant similarities or differences if any.ResultsA total of 77 unique ISBT approved blood group alleles were found commonly in all datasets. 8 variants (rs8176058, rs1058396, rs565898944, rs28362692, rs2071699, rs34783571, rs60322991 and rs57467915) belonging to KELL, KIDD, COLTON, H, JUNIOR and LANGEREIS blood groups were found clinically significant with previously reported evidence on transfusion complications. 730 variants were found to span exonic or splicing regions out of which 70 were predicted to be potentially deleterious by at least four computational tools.ConclusionsThis study serves first of its kind to extensively characterize the known and novel blood alleles in the Middle Easterners. A comprehensive user-friendly online resource namedalnasab -Alleles and antigens in Arab and Persian populations associated with blood groupswas also developed as a dependable reference for future transfusion research. The resource is accessible athttps://clingen.igib.res.in/alnasab/Key pointsLarge scale Middle Eastern population sequencing datasets includingThe Greater Middle Eastern Variome, Genomes and exomes from Qatar and the Iranomedatasets were used in the study.A total of2828exomes and88genomes were analyzed accounting for a total of18717unique human blood group related variants.2443exonic variants were extracted which systematically included1505non-synonymous variants,766synonymous variants,50stopgain variants and3stop loss variants.Blood group associated variants identified in the study are provided as a comprehensive online repository -alnasab,Alleles and antigens in Arab and Persian populations associated with blood groups.The resource is accessible athttps://clingen.igib.res.in/alnasab/Visual abstract

show abstract

Classification of major and minor blood group antigens in the Kuwaiti Arab population

Cited by 7 publications

References 31 publications

Molecular blood group screening in Omani blood donors

Molecular blood group screening in Omani blood donors

Adaptive admixture atACKR1(the Duffy locus) may have shapedPlasmodium vivaxprevalence in Oman

A comprehensive characterization of blood group antigen variants in the Middle Eastern population genomes - Insights into genetic epidemiology

Contact Info

Product

Resources

About