Molecular blood group screening in Omani blood donors

Abstract

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.

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

“…This frameshift allele is extremely rare worldwide but has been reported in several Middle Eastern populations and is documented in the ISBT database of blood group alleles89 . Here, we found that it explained 60% of individuals with a Duffy blood group mismatch from a recent study comparing serology and targeted genotyping in Oman66 , indicating it should be incorporated in future targeted genotyping approaches for blood group inference in Oman and other AP populations. Whether it is associated with any disease phenotype in homozygotes is unknown.The high frequency of the Fy ES allele in Oman is accompanied by a striking signal of increased east African ancestry.…”

“…It has also been observed before in the Middle East (frequency of 4/1002 individuals in the Greater Middle East Variome 51 ), suggesting it is more common in the Middle East than in other parts of the world. To further assess its relevance in Oman, we considered results from a previous study comparing targeted genotyping to serology in Omani individuals 66 . We identified thirteen individuals similarly predicted by genotype as expressing Fy b antigens but showing a Duffy negative phenotype by serology.…”

Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology

“…Although overall concordance was high (>95%), Fy b was an exception (concordance 87%), and only 3 antigens had 100% concordance 5 . Discordances were likely due to the effect of genetic variants that were absent from the genotyping assay.…”

The highest Duffy (FYX) allele frequency ever reported for Scottish population: A cross‐sectional study

“…The Duffy blood group system is a clinically remarkable blood group system 1 . It comprises six antigens (Fy a , Fy b , Fy 3 , Fy 4 , Fy 5 , Fy 6 ), and four main phenotypes; Fy(a+b+), Fy(a−b+), Fy(a+b−), and Fy(a−b−) 2,3 .…”

“…The Duffy blood group system is a clinically remarkable blood group system. 1 It comprises six antigens (Fy a , Fy b , Fy 3 , Fy 4 , Fy 5 , Fy 6 ), and four main phenotypes; Fy(a+b+), Fy(a−b+), Fy(a+b−), and Fy(a−b−). 2,3 The antigens are expressed on a glycosylated erythrocyte membrane protein known as the Duffy antigen receptor for chemokines (DARC).…”