Al-Riyami Arwa Z, Al Hinai Dina, Al-Rawahi Mohammed, Al-Hosni Saif, Al-Zadjali Shoaib, Al-Marhoobi Ali, Al-Khabori Murtadha, Al-Riyami Hamad, Denomme Gregory A
Department of Haematology, Sultan Qaboos University Hospital, Muscat, Oman.
College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Vox Sang. 2022 Mar;117(3):424-430. doi: 10.1111/vox.13204. Epub 2021 Oct 13.
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.
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.
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-) phenotype) was detected in 81/112 (72%) of genotyped samples. In addition, discrepant Fy 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.
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.
血型基因分型已应用于不同人群。本研究旨在评估阿曼献血者常见血型抗原的基因型,并评估其与所获表型的符合率。
对180名阿曼献血者的血样进行评估。采用血清学方法对MNS、RH(RHD/RHCE)、KEL、FY和JK这五个血型系统进行分型。使用RBC - FluoGene vERYfy eXtend试剂盒(inno - train©)对样本进行基因分型。评估了MNS、RH(RHD/RHCE)、KEL、FY、JK、DO、LU、YT、DI、VEL、CO和KN血型系统中70种红细胞抗原的预测表型变异。
130名受试者同时获得了表型和基因型结果。除Fy(b+)(87%)外,所有血型系统的符合率均>95%。在112份基因分型样本中的81份(72%)中检测到导致红系沉默的纯合GATA - 1突变FY*02N.01(导致Fy(b-)表型)。此外,在112份样本中的14份获得了不一致的Fy表型/基因型结果;其中13份具有杂合GATA - 1突变,1份样本具有野生GATA基因型。分别在22/121(18.2%)和14/120(11.7%)的样本中发现了表达V+VS+表型的D和部分e c.733C>G变异。Di(a - b+)、Js(a - b+)、Yt(a + b -)和Kn(a + b -)基因型频率分别为99.4%、95.8%、91.9%和97.7%。
总之,我们报告了由于纯合c.-67T>C GATA - 1单核苷酸变异导致的FY*02N.01等位基因的高频率。这是第一项报告阿曼献血者常见和罕见红细胞基因型详细分布的研究。