A D+ blood donor with a novel RHD*D-CE(5-6)-D gene variant exhibits the low-frequency antigen RH23 (DW) characteristic of the partial DVa phenotype

Transfusion

Volumn 56, Issue 9, 2016, Pages 2322-2330

  Lopez, Genghis H ^a   McGowan, Eunike C ^a   McGrath, Kelli A ^a   Abaca Cleopas, Maria E ^a   Schoeman, Elizna M ^a   Millard, Glenda M ^a   O'Brien, Helen ^a   Liew, Yew Wah ^a   Flower, Robert L ^a   Hyland, Catherine A ^a  

^a AUSTRALIAN RED CROSS BLOOD SERVICE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; EPITOPE; LOW FREQUENCY ANTIGEN; RHESUS ANTIGEN; RHESUS D ANTIGEN; RHESUS23 (D W) ANTIGEN; RHESUS23 ANTIGEN; UNCLASSIFIED DRUG;

ALLOIMMUNIZATION; AMPLICON; ARTICLE; BLOOD DONOR; DNA SEQUENCE; ERYTHROCYTE; EXON; GENE; GENE FREQUENCY; GENE SEQUENCE; GENE STRUCTURE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYBRID GENE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; RHESUS D ANTIGEN GENE; RHESUS D CE(5-6) D GENE; RHESUS23 (D W) GENE;

EID: 84987654901     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/trf.13713     Document Type: Article

References (47)

1. International Society of Blood Transfusion (ISBT). Red Cell Immunogenetics and Blood Group Terminology. Table of blood group antigens v.5_151222 [Internet]. Amsterdam: ISBT Central office; 2016 [cited 2016 May 23]. Available from: http://www.isbtweb.org/fileadmin/user_upload/Working_parties/WP_on_Red_Cell_Immunogenetics_and/Updates/Table_of_blood_group_antigens_within_systems_v5_151222.pdf.
2. Avent ND, Ridgwell K, Tanner MJ, et al. cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression. Biochem J 1990;271:821–5.
3. Mouro I, Colin Y, Chérif-Zahar B, et al. Molecular genetic basis of the human Rhesus blood group system. Nat Genet 1993;5:62–5.
4. Colin Y, Chérif-Zahar B, Le Van Kim C, et al. Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood 1991;78:2747–52.
5. Wagner FF, Flegel WA. RHD gene deletion occurred in the Rhesus box. Blood 2000;95:3662–8.
6. Tippett P, Lomas-Francis C, Wallace M. The Rh antigen D: partial D antigens and associated low incidence antigens. Vox Sang 1996;70:123–31.
7. Hyodo H, Ishikawa Y, Kashiwase K, et al. Polymorphisms of RhD(Va) and a new RhD(Va)-like variant found in Japanese individuals. Vox Sang 2000;78:122–5.
8. Daniels G. Variants of RhD–current testing and clinical consequences. Br J Haematol 2013;161:461–70.
9. Chown B, Lewis M, Kaita H. A new Rh antigen and antibody. Transfusion 1962;2:150–4.
10. Orlina AR, Unger PJ, Lacey PA. Anti-Rh32 causing severe hemolytic disease of the newborn. Rev Fr Transfus Immunohematol 1984;27:613–8.
11. Mayne K, Bowell P, Woodward T, et al. Rh immunization by the partial D antigen of category DVa. Br J Haematol 1990;76:537–9.
12. Spruell P, Lacey P, Bradford M, Moulds M. Incidence of hemolytic disease of the newborn due to anti-Dw [Abstract S169]. Transfusion 1997;37(Suppl):43S.
13. Daniels G. Human blood groups. 3rd ed. Oxford: Wiley-Blackwell Publishing; 2013.
14. Mouro I, Le Van Kim C, Rouillac C, et al. Rearrangements of the blood group RhD gene associated with the DVI category phenotype. Blood 1994;83:1129–35.
15. Rouillac C, Colin Y, Hughes-Jones NC, et al. Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes. Blood 1995;85:2937–44.
16. Avent ND, Liu W, Jones JW, et al. Molecular analysis of Rh transcripts and polypeptides from individuals expressing the DVI variant phenotype: an RHD gene deletion event does not generate All DVIccEe phenotypes. Blood 1997;89:1779–86.
17. Beckers EA, Faas BH, Simsek S, et al. The genetic basis of a new partial D antigen: DDBT. Br J Haematol 1996;93:720–7.
18. Wallace M, Lomas-Francis C, Beckers E, et al. DBT: a partial D phenotype associated with the low-incidence antigen Rh32. Transfus Med 1997;7:233–8.
19. Omi T, Takahashi J, Tsudo N, et al. The genomic organization of the partial D category DVa: the presence of a new partial D associated with the DVa phenotype. Biochem Biophys Res Commun 1999;254:786–94.
20. Huang CH, Chen Y, Reid ME, et al. Evidence for a separate genetic origin of the partial D phenotype DBT in a Japanese family. Transfusion 1999;39:1259–65.
21. Legler TJ, Wiemann V, Ohto H, et al. D(Va) category phenotype and genotype in Japanese families. Vox Sang 2000;78:194–7.
22. Omi T, Okuda H, Iwamoto S, et al. Detection of Rh23 in the partial D phenotype associated with the D(Va) category. Transfusion 2000;40:256–7.
23. Reid ME, Sausais L, Zaroulis CG, et al. Two examples of an inseparable antibody that reacts equally well with Dw+ and Rh32+ red blood cells. Vox Sang 1998;75:230–3.
24. International Society of Blood Transfusion (ISBT). Red Cell Immunogenetics and Blood Group Terminology. Names for RH (ISBT004) blood group alleles, Rh partial D v3.0 141015 [Internet]. Amsterdam: ISBT Central Office; 2016 [cited 2016 May 23]. Available from: http://www.isbtweb.org/fileadmin/user_upload/files-2015/red%20cells/blood%20group%20allele%20terminology/allele%20tables/004%20partial%20RHD%20Alleles%20v3.0%20141015.pdf.
25. Lopez GH, Morrison J, Condon JA, et al. Duffy blood group phenotype-genotype correlations using high-resolution melting analysis PCR and microarray reveal complex cases including a new null FY*A allele: the role for sequencing in genotyping algorithms. Vox Sang 2015;109:296–303.
26. Scott SA, Nagl L, Tilley L, et al. The RHD(1227G>A) DEL-associated allele is the most prevalent DEL allele in Australian D- blood donors with C+ and/or E+ phenotypes. Transfusion 2014;54:2931–40.
27. Gassner C, Schmarda A, Kilga-Nogler S, et al. RHD/CE typing by polymerase chain reaction using sequence-specific primers. Transfusion 1997;37:1020–6.
28. Legler TJ, Maas JH, Köhler M, et al. RHD sequencing: a new tool for decision making on transfusion therapy and provision of Rh prophylaxis. Transfus Med 2001;11:383–8.
29. Granier T, Beley S, Chiaroni J, et al. A comprehensive survey of both RHD and RHCE allele frequencies in sub-Saharan Africa. Transfusion 2013;53:3009–17.
30. Wolter LC, Hyland CA, Saul A. Rhesus D genotyping using polymerase chain reaction. Blood 1993;82:1682–3.
31. Chan FY, Cowley NM, Wolter L, et al. Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation. Prenat Diagn 2001;21:321–6.
32. Jia H, Guo Y, Zhao W, et al. Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer. Sci Rep 2014;4:5737.
33. Scott M. Section 1A: Rh serology. Coordinator's report. Transfus Clin Biol 2002;9:23–9.
34. Flower RL, Lopez GH, McGowan EC, et al. A missing RHD-CE-D hybrid in an RhD positive blood donor: implications for future blood group interpretative algorithms [Abstract P-611]. Vox Sang 2015;109(Suppl S1):294.
35. Sequence Variant Nomenclature, DNA Recommendations [Internet]. Melbourne: Human Genome Variation Society; 2016 [cited 2016 May 23]. Available from: http://varnomen.hgvs.org/.
36. Lopez GH, Schoeman EM, McGowan EC, et al. Homo sapiens RhD (RHD) gene, RHD-CE(5-6)-D allele, complete cds, GenBank KT099190.2 [Internet]. Bethesda: National Center for Biotechnology Information, U.S. National Library of Medicine; 2016. Available from: http://www.ncbi.nlm.nih.gov/nuccore/KT099190.2.
37. Ye L, Wang P, Gao H, et al. Partial D phenotypes and genotypes in the Chinese population. Transfusion 2012;52:241–6.
38. Wagner FF, Flegel WA. RhesusBase [Internet]. Springe: DRK Blutspendedienst; last update 2015 Nov 1 [cited 2016 May 23]. Available from: http://www.rhesusbase.info/.
39. von Zabern I, Flegel WA. IVS5-38del4 deletion in the RHD gene does not cause a DEL phenotype: relevance for RHD alleles including DFR-3. Transfusion 2007;47:1552–5.
40. Wagner FF, Gassner C, Muller TH, et al. Three molecular structures cause rhesus D category VI phenotypes with distinct immunohematologic features. Blood 1998;91:2157–68.
41. D-SCREEN Identification kit for partial Rhesus D—product insert. Loos (France): Diagast; 2006.
42. ALBAclone Advanced partial RhD typing kit—product insert. Edinburgh: Alba Bioscience Ltd.; 2007.
43. Wagner FF, Eicher NI, Jorgensen JR, et al. DNB: a partial D with anti-D frequent in Central Europe. Blood 2002;100:2253–6.
44. Chen Q, Flegel WA. Random survey for RHD alleles among D+ European persons. Transfusion 2005;45:1183–91.
45. Halawani AJ, Altayar MA, Kiernan M, et al. Can next-generation DNA sequencing solve the Rh complexity for genotyping? [Abstract P-440]. Vox Sang 2014;107(Suppl 1):196.
46. Avent ND, Madgett TE, Halawani AJ, et al. Next generation sequencing: academic overkill or high-resolution blood group genotyping? [Abstract 4A-S25-01]. Vox Sang 2014;107(Suppl 1):37.
47. Tilley L, Grimsley S. Is next generation sequencing the future of blood group testing? Transfus Apher Sci 2014;50:183–8.