Lab Med Online.  2022 Jul;12(3):201-204. 10.47429/lmo.2022.12.3.201.

The First Korean Case of RHD-CE(3-8)-D Hybrid Type with a D-negative Phenotype

• Bae GE
• Kim TY
• Yu H
• Seo JY
• Cho D

• KMID: 2538606
• DOI: http://doi.org/10.47429/lmo.2022.12.3.201

Abstract

RHD-CE-D hybrid alleles cause partial D or D-negative phenotypes depending on the crossing-over sites between RHD and RHCE. The RHD-CE(2-9)-D hybrid allele is the only hybrid form reported as D-negative in the Korean population. Here, we report the first Korean case of the RHD-CE(3-8)-D allele in a D-negative patient with heart failure. His blood sample was typed as D-negative by the automated microplate method (QWALYS-3 system; DIAGAST, France). Weak D test was weak positive, but false positive reactivity could not be excluded due to positive direct antiglobulin test. To confirm the RhD type, RHD genotyping was performed, and the RHD-CE(3-8)-D hybrid, known as D-negative allele, was identified. Upon the patient’s subsequent visit 7 months later, a follow-up RhD typing including an adsorption-elution test confirmed that the patient was D-negative.

Keyword

RhD; Genotyping; RHD-CE-D hybrid; D-negative

Figure

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  Fig. 1 (A) Schematic representation of the genomic structure of RHD-CE(3-8)-D compared with intact RHD and RHCE gene. The black and white boxes represent RHD and RHCE exons 1-10, respectively. (B) PCR-SSP for RHD exon scanning. Exons 3-8 indicated by the dotted line did not result in amplification, suggesting RHD-CE(3-8)-D hybrid. Faint bands in exons 3 and 7 were considered non-specific according to (C), the expected size for amplification.

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