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
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: email@example.com
*These authors equally contributed to this study.
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.
Partial D phenotypes have historically been classified using epitope studies  and, recently, using genetic studies. DBS is a partial D phenotype characterized by c.[676G>C]+[697G>C] (NM_016124.4) and has been named based on its positive reactivity with the D monoclonal antibodies (MoAbs) BS228 and BS233 (Biotest, Dreieich, Germany) . Three DBS subtypes have been reported till date:
The proband was a Korean woman with fibrocystic breast changes, who was admitted to the Samsung Medical Center. D typing using anti-D Bioclone (MAD2 clone; Ortho Clinical Diagnostics, Raritan, NJ, USA) was negative. Weak D testing using anti-D Bioclone and human IgG/IgM monoclonal anti-D (Millipore, Livingston, UK) yielded a result of grade 2+, while the result of partial D testing using D-screen (Diagast, Loos, France) was consistent with
The RhCE phenotype was ccEe (anti-C, -c, -E, and -e antibodies were obtained from Bioclone, Ortho Clinical Diagnostics, Buckinghamshire, UK), and
In various partial D phenotypes, such as DIIIa, DVa, DVI, DAR, DFR, DBT, and DBS,
The genetic basis of the RhD blood group differs across races and ethnicities. For example, the RhD-negative phenotype mainly results from
In conclusion, we reported the first case of
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
- Avent ND, Finning KM, Liu W, Scott ML. Molecular biology of partial D phenotypes. Transfus Clin Biol 1996;3:511-516.
- 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.
- 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.
- 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.
- 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.
- 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.
- The Human RhesusBase, version 2.4 http://www.rhesusbase.info. (Updated on Dec 2018).
- 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.
- 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.
- 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.