약한 D 표현형을 가진 한 환자에서 발견된 weak D type 33: 국내 첫 보고

유홍비,박종은,박건,조덕 대한수혈학회 2019 大韓輸血學會誌 Vol.30 No.1

RHD genotyping is a useful adjunct to serologic testing. Although the use of RHD genotyping in the detection of Asia type DEL in serological D negative Koreans is gradually increasing, it is rarely requested for patients with a known weak D phenotype. This paper reports the first Korean case of a 52-year-old female patient with serologic weak D phenotype and weak D type 33 (c.520G>A at exon 4 of RHD) identified by RHD exon 1 to 10 sequencing. In silico analysis predicted that the RHD c.520G>A (V174M) results in a serologic weak D phenotype.

A2B 표현형을 가진 캄보디아인에서 발견된 이중 특이성을 갖는 당전이효소를 부호화하는 희귀한 ABO 대립 유전자

유홍비,정유나,김태열,서은상,최광모,조덕 대한수혈학회 2020 大韓輸血學會誌 Vol.31 No.3

Cis-AB and B(A) alleles encode an ABO enzyme with dual A and B glycosyltransferase activity. Although globally rare, the cis-AB phenotype is found relatively often in Korean, Japanese, and Chinese populations. Cases of the B(A) allele have been reported mostly in the Chinese population. Forward typing performed in a Cambodian woman with an ABO discrepancy demonstrated a strong reaction with anti-A and anti-B reagents, while there was no reaction with lectin anti-A1. The anti-A1 antibody was detected in reverse typing. Through ABO gene sequence analyses of exons 6 and 7, one of the alleles was identified as ABO*B.01. In contrast, the other allele harboring a c.803G>C substitution was either ABO*cisAB.05 or ABO*BA.06 allele. The ABO*cisAB.05 and ABO*BA.06 alleles remain indistinguishable despite routine serological testing and ABO genotyping. To the best of the author’s knowledge, this is the first case report of these variants discovered in a Cambodian individual residing in Korea.

틀이동변이 RHD 711delC에 의한 D-변이형 증례 1건

마태오,유홍비,전수학,조덕,천세종,신명근 대한수혈학회 2019 大韓輸血學會誌 Vol.30 No.2

D antigens are clinically significant, and routine tests on the D antigen requires the inclusion of weak D testing, which is performed using indirect antihuman immunoglobulin methods. On the other hand, exact typing of the D type of an individual can be done more precisely with RHD genotyping, which is a useful tool in cases where the RHD gene is intact. The majority of weak-D or partial-D cases are from single nucleotide changes or hybridization of RHD and RHCE genes. Nevertheless, frameshift mutations can also result in weak or partial-D. The characteristics of a frameshift mutation is typically a change in protein product after a problematic mutation and early termination of transcription, leading into truncated protein products. This paper reports a D-variant case with RHD 711delC along with a review of the relevant literature. In addition, the results of software analysis are reported. (Korean J Blood Transfus 2019;30:168-173)

ABO 불일치를 보인 A1B3 표현형의 ABO*B3.01 유전형 1예: 국내 첫 보고

김남수,유홍비,이재현,김달식,이혜수,정유나,조용곤,조덕 대한수혈학회 2019 大韓輸血學會誌 Vol.30 No.3

B3 is a rare finding, but it is most common in the B subgroup, which been reported as being 0.025% of the total B group in Koreans. ABO*B3.01 is a specific allele for B3, a missense mutation with a substituted thymine from cytosine of the 1,054th nucleotide of the ABO*B.01 allele, but rather unexpectedly, it has not been reported in Koreans. We report here the first Korean case of the serological A1B3 phenotype with ABO*B3.01, which was confirmed by sequencing of exons 6 and 7 of the ABO gene, found in a pregnant woman. (Korean J Blood Transfus 2019;30:236-240)

RHD 유전자검사로 확진된 Partial D type VI-3 증례

이종권,유홍비,정유나,배재춘,조덕 대한진단검사의학회 2020 Laboratory Medicine Online Vol.10 No.4

Weak D and partial D result in quantitative and qualitative changes in RhD protein expression respectively. It is difficult to discriminate weak D from partial D by serological tests alone. RHD genotyping is a useful method that complements serological results. A 64-year-old woman visited our hospital for microvascular decompression surgery. Her blood type was O, D negative by manual tube test and as per auto analyzer results (QWALYS-3 system; DIAGAST, France). Weak D and partial D tests were performed by using two different monoclonal anti-D reagents (Bioscot; Merck Millipore, UK; Bioclone; Ortho Clinical Diagnostics, USA) and a panel of nine monoclonal antibodies, including anti-D IgM and IgG (D-Screen; DIAGAST, France). However, these serological tests could not confirm the subtype of partial D. Therefore, sequencing of RHD exon 1 to 10 was additionally performed for the patient and the case was revealed to be partial DVI type 3. 약-D형은 적혈구에 표현되는 D 단백질의 양적 감소를, 부분-D형은 질적 결손을 유발한다. 이들은 혈청학적 방법만으로는 정확한 감별이 어려운데, RHD 유전자검사는 이런 혈청학적 검사를 보완할 수 있는 유용한 검사다. 본 증례는 64세 여자 환자로 미세혈관감압술을 위해 내원하였다. 환자는 수기튜브법과 자동혈액형검사장비(QWALYS-3 system; DIAGAST, France)에 의해 O형, D 음성이었고, 두 종류의 단클론성 항-D 시약(Bioscot; Merck Millipore, UK 및 Bioclone; Ortho Clinical Diagnostics, USA)을 이용한 약-D 검사와 9개의 단클론성항체(항-D IgM & IgG)로 구성된 시약(D-Screen; DIAGAST, France)으로 실시한 부분-D 검사로도 부분-D형의 세부 유형을 결정할 수 없었다. 따라서, RHD 유전자의 엑손 1에서 10까지 염기서열분석법을 추가로 실시하였고, 혈청학적으로 약한 D 표현형의 본 환자는 부분-D type 3형으로 확인되었다.

First Case in Korea of a Patient With Anti-PP1Pk Antibodies: Successful Blood Management via Acute Normovolemic Hemodilution

하창희,최수인,유홍비,천세종,김경희,이종환,한인웅,조덕 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.6

한 가족에서 발견된 Weak D Type 102: 국내 첫 보고

이범기,정유나,유홍비,김태열,최광모,조덕 대한수혈학회 2020 大韓輸血學會誌 Vol.31 No.2

Weak D type 102 allele (RHD*01W.102) carrying a missense variant (c.73A>T, p.Ile25Phe) in exon 1 of the RHD has not been reported in Koreans to date. This is the first report of the weak D type 102 allele in the Korean population. The proposita, a 35-year-old woman, showed a serological weak D phenotype in routine RhD typing. Sequencing of all 10 RHD exons and zygosity testing targeting the hybrid Rhesus box revealed this proposita to harbor the weak D type 102 allele, as well as an RHD deletion (RHD*01W.102/RHD*01N.01). Family studies showed that the weak D type 102 allele was also present in her father and older brother (both assumed to be RHD*01W.102/RHD*01) but not in her mother and oldest brother (both assumed to be RHD*01/RHD*01N.01). In silico analysis of the replacement of isoleucine by phenylalanine at position 25 was done with PolyPhen-2, SIFT, and PROVEAN. While PolyPhen-2 predicted the variant as benign, SIFT and PROVEAN predicted it as damaging and deleterious, respectively, suggesting RHD c.73A>T (I25F) as the cause of serologic weak D phenotype. This patient should be treated as D-negative, when transfusion is needed. (Korean J Blood Transfus 2020;31:153-158)

Cis-AB, the Blood Group of Many Faces, Is a Conundrum to the Novice Eye

천세종,최수인,유홍비,조덕 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.2

Cis-AB, a rare ABO variant, is caused by a gene mutation that results in a single glycosyltransferase enzyme with dual A and B glycosyltransferase activities. It is the most frequent ABO subgroup in Korea, and it occurs more frequently in the East Asian region than in the rest of the world. The typical phenotype of cis-AB is A2B3, but it can express various phenotypes when paired with an A or B allele, which can lead to misclassification in the ABO grouping and consequently to adverse hemolytic transfusion reactions. While cis-AB was first discovered as having an unusual inheritance pattern, it was later found that both A and B antigens are expressed from the same allele inherited from a single parent; hence, the name cis-AB. Earlier studies relied on serological and familial investigation of cis-AB subjects, but its detection has become much easier with the introduction of molecular methods. This review will summarize the serological variety, genetic basis and inheritance pattern, laboratory methods of investigation, clinical significance, and the blood type of choice for transfusion for the cis-AB blood group.

Weak D Testing is not Required for D- Patients With C-E- Phenotype

최수인,천세종,이환태,유홍비,서지영,조덕 대한진단검사의학회 2018 Annals of Laboratory Medicine Vol.38 No.6

Background: Although testing to detect weak D antigens using the antihuman globulin reagent is not required for D- patients in many countries, it is routinely performed in Korea. However, weak D testing can be omitted in D- patients with a C-E- phenotype as this indicates complete deletion of the RHD gene, except in rare cases. We designed a new algorithm for weak D testing, which consisted of RhCE phenotyping followed by weak D testing in C+ or E+ samples, and compared it with the current algorithm with respect to time and cost-effectiveness. Methods: In this retrospective study, 74,889 test results from January to July 2017 in a tertiary hospital in Korea were analyzed. Agreement between the current and proposed algorithms was evaluated, and total number of tests, time required for testing, and test costs were compared. With both algorithms, RHD genotyping was conducted for samples that were C+ or E+ and negative for weak D testing. Results: The algorithms showed perfect agreement (agreement=100%; κ=1.00). By applying the proposed algorithm, 29.56% (115/389 tests/yr) of tests could be omitted, time required for testing could be reduced by 36% (8,672/24,084 min/yr), and the test cost could be reduced by 16.53% (536.11/3,241.08 USD/yr). Conclusions: Our algorithm omitting weak D testing in D- patients with C-E- phenotype may be a cost-effective testing strategy in Korea.

단일 상급종합병원에서 여러 수혈전검사 프로토콜 운영 경험

최수인,조덕,신성환,서지영,유홍비,천세종 대한수혈학회 2018 大韓輸血學會誌 Vol.29 No.2

Background: Pretransfusion tests are essential for safe transfusions, but occasionally, part or all can be omitted when a transfusion is needed urgently in an emergency. The purpose of this study was to share the authors’ experience of various pretransfusion test protocols in a tertiary referral hospital in Korea. Methods: From July 2016 to June 2017, all transfusion cases at Samsung Medical Center were analyzed retrospectively. For each pretransfusion test protocol, the parameters regarding issue, return and disposal rate of blood products, occurrence of hemolytic transfusion adverse effect, and prescription frequency of each respective department and ordering site were analyzed. Results: A total of 90,539 units of red blood cells, 24,814 units of fresh frozen plasmas, 24,758 units of single donor platelets, and 23,303 units of platelet concentrates were issued during the study period. Among them, 3.6%, 1.8%, 0.3%, and 0.4% of red blood cells, fresh frozen plasmas, single donor platelets, and platelet concentrates were issued according to the emergency transfusion protocols. When various pretransfusion test protocols were applied to issue blood products, there was no case in which an adverse hemolytic transfusion reaction was suspected. When compared with usual pretransfusion test protocol, all emergency transfusion protocols showed significantly higher return and wastage rates in red blood cells and fresh frozen plasmas. Platelets also had a higher return and wastage rate, but the difference was not significant. Conclusion: These results suggests that there is no different risk of adverse hemolytic transfusion reaction regardless the pre-transfusion protocols, but management about of the increased rate of return and wastage of blood products in emergency transfusions should be considered.