RHD (c.1227G＞A) DEL형 적혈구 수혈에 의한 항-D항체 발생1예 = A Case of Primary Anti-D Alloimmunization by RHD (c.1227G＞A) DEL Red Blood Cell Transfusion

다국어 초록 (Multilingual Abstract)

The Rh blood group D antigen is the most immunogenic of all antigens, next to ABO antigens. Anti-D immunization is clinically important since it may cause clinical problems, such as severe hemolytic transfusion reactions and hemolytic disease of the newborn. DEL is an extremely weak D variant that cannot be detected by basic serologic typing and is typed as D-negative without the absorption-elution techniques and RHD genotyping. Of the DEL phenotype, RHD (c.1227G>A) allelic variant is the most common in Korea. The DEL phenotype has been considered to carry only a few D antigens to induce anti-D immunization, but a few cases have reported that this allelic variant is capable of inducing anti-D immunization in a D-negative recipient, for which it is clinical significant. Herein, we present a case of primary anti-D alloimmunization in a RhD negative patient after receiving RHD (c.1227G>A) DEL red cell transfusion identified by serological and molecular tests, including RHD genotyping.

국문 초록 (Abstract)

RhD 혈액형은 ABO 혈액형 다음으로 강한 면역원성을 가지며 신생아 용혈성 질환, 심각한 용혈수혈이상반응 등을 유발할 수 있어 임상적으로중요한 혈액형이다. DEL형은 기본적인 혈청학적검사에서는 검출되지 않으며, 흡착-해리 시험 없이는 D 음성으로 판정되고 RHD 유전자 분석에서만 검출되는 항원이 극소량으로 존재하는 D 변이형이다. DEL형 중 RHD (c.1227G＞A) 대립유전자형은 한국에서 가장 흔하다. DEL형은 항-D항체를 생성하기에는 매우 적은 D항원수를 가지고있다고 여겨 왔으나 이들의 혈액이 D 음성환자에게 수혈시 항-D항체가 생긴 증례가 일부 보고된 바 있다. 이에 저자들은 RhD 음성 환자에서RHD (c.1227G＞A) 대립유전자형의 DEL형 적혈구를 수혈 받은 후 항-D항체가 생성된 1예를 혈청학적 검사 및 유전자분석을 통하여 확인하였기에 보고하는 바이다.

참고문헌 (Reference)

1 Silvy M, "Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles" 51 : 401-411, 2011

2 Shao CP, "Transfusion of RhD-positive blood in “Asia type” DEL recipients" 362 : 472-473, 2010

3 Aubin JT, "Specificity and sensitivity of RHD genotyping methods by PCR-based DNA amplification" 98 : 356-364, 1997

4 Yasuda H, "Secondary anti-D immunization by Del red blood cells" 45 : 1581-1584, 2005

5 Wagner FF, "RHD positive haplotypes in D negative Europeans" 2 : 10-, 2001

6 김경희, "Primary anti-D Immunization by DEL Red Blood Cells" 대한진단검사의학회 29 (29): 361-365, 2009

7 양현석, "Primary Anti-D Alloimmunization Induced by “Asian Type” RHD (c.1227G>A) DEL Red Cell Transfusion" 대한진단검사의학회 35 (35): 554-556, 2015

8 Kim JY, "Molecular characterization of D-Korean persons:development of a diagnostic strategy" 45 : 345-352, 2005

9 Wagner FF, "Frequencies of the blood groups ABO, Rhesus, D category VI, Kell, and of clinically relevant high-frequency antigens in south-western Germany" 22 : 285-290, 1995

10 Wang YH, "Detection of RhD(el) in RhD-negative persons in clinical laboratory" 146 : 321-325, 2005

11 서민희, "DEL 변이형의 수혈전략과 검사의 최신지견" 대한수혈학회 26 (26): 1-8, 2015

12 Shao CP, "DEL RBC transfusion should be avoided in particular blood recipient in East Asia due to allosensitization and ineffectiveness" 13 : 913-918, 2012

13 Wagner T, "Anti-D immunization by DEL red blood cells" 45 : 520-526, 2005

14 Luettringhaus TA, "An easy RHD genotyping strategy for DEast Asian persons applied to Korean blood donors" 46 : 2128-2137, 2006

15 Körmöczi GF, "A comprehensive analysis of DEL types: partial DEL individuals are prone to anti-D alloimmunization" 45 : 1561-1567, 2005