Article

Letter to the Editor

Ann Lab Med 2020; 40(4): 337-340

Published online July 1, 2020 https://doi.org/10.3343/alm.2020.40.4.337

Copyright © Korean Society for Laboratory Medicine.

First Korean Case of Partial D DBS-1

Sooin Choi, M.D.1,* , HongBi Yu, B.S.2,* , and Duck Cho, M.D.2,3

1Department of Laboratory Medicine, Soonchunhyang University Hospital Cheonan, Soonchunhyang University College of Medicine, Cheonan, Korea; 2Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, Korea; 3Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence to: Duck Cho, M.D.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-2403, Fax: +82-2-3410-2719, E-mail: duck.cho@skku.edu

*These authors equally contributed to this study.

Received: August 1, 2019; Revised: August 18, 2019; Accepted: November 12, 2019

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Fig. 1.

Results of the genetic analysis of the proband and her family members. (A) Long-range PCR with primers located in non-Rhesus box sequences. A 2,778-bp fragment was amplified by PCR, indicating the presence of a hybrid RHD gene (lanes I-1, II-1, and II-2). (B) Pedigree, Rh phenotypes, and RHD genotypes of the Korean DBS-1 family. The genotypes and phenotypes of the DBS-1 family were determined using combined data from sequencing analysis, hybrid Rhesus box PCR, and serological analysis. Black circles indicate the DBS-1 phenotype. The proband is indicated by a black arrow. Total RHD deletion is denoted as “d” in the genotype. (C) Part of the RHD nucleotide sequence in DBS reported by Wagner, et al. [3] and this case. In both cases, the 5′ breakpoint region was located between the RHD-specific c.642-249T and the first RHCE-specific nucleotide, c.667G (blue arrow). The 3′ breakpoint region, located between the last RHCE-specific nucleotide and the first RHD-specific nucleotide of intron 5, differed for each case; it was located between c.800 and c.801+101 in the case reported by Wagner, et al. [3] and between c.801+1463 and c.801+1505 in the current case (white arrow).


Comparison of serologic characteristics based on analysis using MoAbs between previous DBS cases and the present DBS case. Partial D testing was performed using D-screen (Diagast, Loos, France)

TypeRhD phenotypeRhCE phenotypeEthnicityReference
D epitopeepD2epD3epD5epD6/7epD6/7, epD9*epD6/7, NAepD8epD9
MoAbsP3X249P3X290P3X241P3X35HM10HM16P3X61TH28, MS26MAD2, PolyclonalP3X21211F1P3X21223B10
DBS-0NANANANANANANANANANANACDeNA[1]
DBS-1PosPosNegNegNegNegNegNeg (IS)Neg (IS)NegPoscDEKoreanCurrent study
Pos (AHG)Pos (AHG)
Pos (1+)Pos (3+)NegNegNegNegNegNANANegPos (2+)cDEArabian[3]
Pos (1+)NANegNegNANegNANANANegPos (1+)cDEJapanese[4]
DBS-2NegNegNegNegNegNegNegNANATracePos (1+)cDEChinese[5]

  1. Avent ND, Finning KM, Liu W, Scott ML. Molecular biology of partial D phenotypes. Transfus Clin Biol 1996;3:511-516.
    Pubmed
  2. Flegel WA, Von Zabern I, Doescher A, Wagner FF, Vytisková J, Písačka M. DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule. Transfusion 2008;48:25-33.
    Pubmed
  3. Wagner FF, Ernst M, Sonneborn HH, Flegel WA. A DV-like phenotype is obliterated by A226P in the partial D DBS. Transfusion 2001;41:1052-1058.
    Pubmed
  4. Omi T, Takahashi J, Seno T, Tanaka M, Hirayama F, Matsuo M, et al. Isolation, characterization, and family study of DTI, a novel partial D phenotype affecting the fourth external loop of D polypeptides. Transfusion 2002;42:481-489.
    Pubmed
  5. Ye L, Wang P, Gao H, Zhang J, Wang C, Li Q, et al. Partial D phenotypes and genotypes in the Chinese population. Transfusion 2012;52:241-246.
    Pubmed
  6. Fasano RM, Monaco A, Meier ER, Pary P, Lee-Stroka AH, Otridge J, et al. RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management. Blood 2010;116:2836-2838.
    Pubmed
  7. The Human RhesusBase, version 2.4 http://www.rhesusbase.info. (Updated on Dec 2018).
  8. Omi T, Okuda H, Iwamoto S, Kajii E, Takahashi J, Tanaka M, et al. Detection of Rh23 in the partial D phenotype associated with the DVa category. Transfusion 2000;40:256-257.
    Pubmed
  9. Wheeler MM, Lannert KW, Huston H, Fletcher SN, Harris S, Teramura G, et al. Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts. Genet Med 2019;21:477.
    Pubmed
  10. Choi S, Chun S, Seo JY, Yang JH, Cho D. Planned transfusion of D-positive blood components in an Asia type DEL patient: proposed modification of the Korean National Guidelines for Blood Transfusion. Ann Lab Med 2019;39:102-104.
    Pubmed