Volume 7 Issue 1
Jun.  2023
Turn off MathJax
Article Contents
Xue Rui, Hongjun Gao, Yu Zhang, Jiling Xu, Chengtao He, Qiang Fu. RHD haplotype analysis of a D negative cohort[J]. Blood&Genomics, 2023, 7(1): 43-47. doi: 10.46701/BG.2023012022033
Citation: Xue Rui, Hongjun Gao, Yu Zhang, Jiling Xu, Chengtao He, Qiang Fu. RHD haplotype analysis of a D negative cohort[J]. Blood&Genomics, 2023, 7(1): 43-47. doi: 10.46701/BG.2023012022033

RHD haplotype analysis of a D negative cohort

doi: 10.46701/BG.2023012022033
More Information
  • Corresponding author: Chengtao He, Red Cell Reference Laboratory, Nanjing Red Cross Blood Center, Nanjing, Jiangsu 210003, China. E-mail: hechengtao413@126.com; Qiang Fu, Department of Blood Management, Nanjing Red Cross Blood Center, Nanjing, Jiangsu 210003, China. E-mail: fuqiangnj@hotmail.com
  • Received Date: 2022-11-14
  • Rev Recd Date: 2023-04-17
  • Accepted Date: 2023-05-26
  • Available Online: 2023-07-05
  • Publish Date: 2023-06-30
  • This study aimed to explore the distribution of the variant RHD genotypes in Jiangsu, China. A total of 108541 blood donor samples and 17 family members were tested from 2020 to 2021. A total of 121 RHD variants were found in 414 D negative samples and their families, including seven weak D, four partial, and three Del alleles. RHD*15 and RHD*DVI.3 were the prevalent D variant alleles in Jiangsu Province. Heterozygous alleles were identified (c.730G>C, c.1227G>A), and a case of unique intronic mutation was detected (c.802-41_802-38delCTCT). This study suggests that the frequency of RHD variants is crucial for establishing specific RHD genotyping strategies and can be applied in larger-scale routine tests for blood donors.

     

  • These authors contributed equally to this work.
  • loading
  • [1]
    Gao M, Chen Y. The RHD variants in Chinese population[J]. Blood Genom, 2020, 4(1): 31−38. doi: 10.46701/BG2020012020106
    [2]
    Jackson ME, JM Baker. Hemolytic disease of the fetus and newborn: historical and current state[J]. Clin Lab Med, 2021, 41(1): 133−151. doi: 10.1016/j.cll.2020.10.009
    [3]
    Avent ND, Reid ME. The Rh blood group system: a review[J]. Blood, 2000, 95(2): 375−387. doi: 10.1182/blood.V95.2.375
    [4]
    Daniels G. Variants of RhD-current testing and clinical consequences[J]. Br J Haematol, 2013, 161(4): 461−470. doi: 10.1111/bjh.12275
    [5]
    Miranda MR, Dos Santos TD, Castilho L. Systematic RHD genotyping in Brazilians reveals a high frequency of partial D in transfused patients serologically typed as weak D[J]. Trans Apher Sci, 2021, 60(6): 103235. doi: 10.1016/j.transci.2021.103235
    [6]
    Ansart-Pirenne H, Asso-Bonnet M, Le Pennec PY, et al. RhD variants in Caucasians: consequences for checking clinically relevant alleles[J]. Transfusion, 2004, 44(9): 1282−1286. doi: 10.1111/j.1537-2995.2004.04063.x
    [7]
    Krog GR, Clausen FB, Dziegiel MH. Quantitation of RHD by real-time polymerase chain reaction for determination of RHD zygosity and RHD mosaicism/chimerism: an evaluation of four quantitative methods[J]. Transfusion, 2007, 47(4): 715−722. doi: 10.1111/j.1537-2995.2007.01175.x
    [8]
    Safic Stanic H, Dogic V, Bingulac-Popovic J, et al. RhD alloimmunization by DEL variant missed in donor testing[J]. Transfusion, 2022, 62(5): 1084−1088. doi: 10.1111/trf.16862
    [9]
    Flegel, WA. Molecular genetics and clinical applications for RH[J]. Transfus Apher Sci, 2011, 44(1): 81−91. doi: 10.1016/j.transci.2010.12.013
    [10]
    Floch A, Pirenne F, Barrault A, et al. Insights into anti-D formation in carriers of RhD variants through studies of 3D intraprotein interactions[J]. Transfusion, 2021, 61(4): 1286−1301. doi: 10.1111/trf.16301
    [11]
    Westhoff CM, Nance S, Lomas-Francis C, et al. Experience with RHD*weak D type 4.0 in the USA[J]. Blood Transfus, 2019, 17(2): 91−93. doi: 10.2450/2018.0114-18
    [12]
    Sandler SG, Chen LN, Flegel WA. Serological weak D phenotypes: a review and guidance for interpreting the RhD blood type using the RHD genotype[J]. Br J Haematol, 2017, 179(1): 10−19. doi: 10.1111/bjh.14757
    [13]
    Moussa H, Tsochandaridis M, Kacem N, et al. RHD positive among C/E+ and D-negative blood donors in Tunisia[J]. Transfus Clin Biol, 2014, 21(6): 320−323. doi: 10.1016/j.tracli.2014.10.004
    [14]
    Yin Q, Flegel WA. DEL in China: the D antigen among serologic RhD-negative individuals[J]. J Transl Med, 2021, 19(1): 1−4. doi: 10.1186/s12967-021-03116-6
    [15]
    Shao CP. Transfusion of RhD-positive blood in "Asia type" DEL recipients[J]. N Engl J Med, 2010, 362(5): 472−473. doi: 10.1056/NEJMc0909552
    [16]
    Li Q, Hou L, Guo ZH, et al. Molecular basis of the RHD gene in blood donors with DEL phenotypes in Shanghai[J]. Vox Sang, 2009, 97(2): 139−146. doi: 10.1111/j.1423-0410.2009.01181.x
    [17]
    El Housse H, El Wafi M, Ouabdelmoumene Z, et al. Comprehensive phenotypic and molecular investigation of RhD and RhCE variants in Moroccan blood donors[J]. Blood Transfus, 2019, 17(2): 151−156. doi: 10.2450/2018.0153-18
    [18]
    Sandler SG, Queenan JT. A guide to terminology for Rh immunoprophylaxis[J]. Obstet Gynecol, 2017, 130(3): 633−635. doi: 10.1097/AOG.0000000000002190
    [19]
    Ye SH, Wu DZ, Wang MN, et al. A comprehensive investigation of RHD polymorphisms in the Chinese Han population in Xi'an[J]. Blood Transfus, 2014, 12(3): 396−404. doi: 10.2450/2013.0121-13
    [20]
    Wu F, Liang S, Zhuang NB, et al. A new RHD variant allele caused by an RHD c.1228-1G>C mutation in a Chinese family[J]. Transfusion, 2021, 61(9): E55−E56. doi: 10.1111/trf.16510
    [21]
    Zhang J, Zeng Y, Wang Y, et al. RHD genotypes in a Chinese cohort of pregnant women[J]. Front Genet, 2021, 12: 752485. doi: 10.3389/fgene.2021.752485
    [22]
    Gao Y, Meng X, Hu J, et al. Study of RHD genes amongst RhD negative patients in Xuzhou[J]. Minerva Biotecnologica, 2015, 27(4): 211–213.
    [23]
    Mouro I, Le Van Kim C, Rouillac C, et al. Rearrangements of the blood group RhD gene associated with the DVI category phenotype[J]. Blood, 1994, 83(4): 1129−1135. doi: 10.1182/blood.V83.4.1129.1129
    [24]
    Chérif-Zahar B, Le Van Kim C, Rouillac C, et al. Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region[J]. Genomics, 1994, 19(1): 68−74. doi: 10.1006/geno.1994.1014
    [25]
    Ye L, Wang P, Gao H, et al. Partial D phenotypes and genotypes in the Chinese population[J]. Transfusion, 2012, 52(2): 241−246. doi: 10.1111/j.1537-2995.2011.03266.x
    [26]
    Haer-Wigman L, Veldhuisen B, Jonkers R, et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification[J]. Transfusion, 2013, 53(7): 1559−1574. doi: 10.1111/j.1537-2995.2012.03919.x
    [27]
    Papasavva T, Martin P, Legler TJ, et al. Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus[J]. BMC Res Notes, 2016, 9(1): 198. doi: 10.1186/s13104-016-2002-x
    [28]
    Ji YL, Luo H, Wen JZ, et al. RHD genotype and zygosity analysis in the Chinese Southern Han D+, D- and D variant donors using the multiplex ligation-dependent probe amplification assay[J]. Vox Sang, 2017, 112(7): 660−670. doi: 10.1111/vox.12554
    [29]
    He J, Ying Y, Hong X, et al. Molecular basis and zygosity determination of D variants including identification of four novel alleles in Chinese individuals[J]. Transfusion, 2015, 55(1): 137−143. doi: 10.1111/trf.12797
    [30]
    Shao CP, Maas JH, Su YQ, et al. Molecular background of RhD positive, D-negative, D(el) and weak D phenotypes in Chinese[J]. Vox Sang, 2002, 83(2): 156−161. doi: 10.1046/j.1423-0410.2002.00192.x
    [31]
    Huang B, Jia S, Wen J, et al. Serological characteristics and genotype analysis of D epitope of blood group in RhD variant individuals in Guangzhou[J]. Chin J Blood Transfusion (in Chinese), 2021, 32(12): 1290−1295. doi: 10.13303/j.cjbt.issn.1004-549x.2021.12.004
    [32]
    Wen J, Jia S, Liao Z, et al. Molecular genetic analysis of 32 Chinese Guangzhou donors with D variant phenotype[J]. Chin J Blood Transfusion (in Chinese), 2019, 32(2): 154−157. doi: 10.13303/j.cjbt.issn.1004-549x.2019.02.014
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Tables(1)

    Article Metrics

    Article views (122) PDF downloads(14) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return