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

Abstract

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.