유전자 검사로 확인된 p 표현형 한국인 여자 환자에서 동정된 항-PP1Pk 1예
Anti-PP1Pk (Tja) Antibody in a Korean Female Patient with p Phenotype Confirmed by Genotyping
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초록
저자들은 정신지체로 장기간 재활 치료를 받던 중 빈혈이 진단 된 20세 한국인 여성에게서 항-PP1Pk 동종항체를 발견하였고 환자 의 p 표현형도 확인한 증례를 보고하고자 한다. 환자는 태어난 지 6일 만에 받은 2번의 교환 수혈 외의 다른 수혈력은 없었다. 그녀의 혈액형은 B형, RhD 양성이었으며 비예기항체 선별검사 및 동정검 사에서 3+ ~ 4+정도의 반응 강도로 범응집 소견을 보였고, 자가대 조검사는 음성이었다. 따라서 환자가 고빈도항원에 대한 항체를 가지고 있을 것으로 예상되었고 추가적인 비예기항체의 동정검사 를 위해 스위스 적십자 표준 검사실에 의뢰한 결과 환자의 항체는 항-PP1Pk로 동정되었으며, 추가적으로 환자의 p 표현형도 확인되었 다. 환자의 p 표현형을 확인하기 위해 A4GALT 유전자에 대한 중 합효소연쇄반응법 및 직접염기서열분석법을 시행하였고, 그 결과 c.301delG 돌연변이가 동형접합형으로 관찰되어 환자의 표현형이 유전자형과 일치하는 것을 확인하였다. 다행스럽게도 환자는 철결 핍빈혈로 진단이 되어 수혈 없이 철분제 투약만으로 빈혈 교정이 가능하였으나, 여전히 이러한 환자들에게 적절한 적혈구 제제를 찾아주는 것은 매우 어려운 일이다. 아직까지 한국인을 대상으로 한 p 표현형의 빈도에 대한 연구가 없었기 때문에 항-PP1Pk의 경우 처럼 고빈도항원 및 해당 항원이 없는 사람에게서 발생할 수 있는 비예기항체에 대한 추가 연구가 필요할 것으로 사료된다.
Abstract
In this study, we report a case of anti-PP1Pk (Tja) alloantibody with p phenotype detected and confirmed in a 20-year-old Korean woman diagnosed with anemia during long-term rehabilitation treatment due to mental retardation. She did not have any transfusion history, except two exchange transfusions received 6 days after she was born. Her blood type was B, RhD+, and findings from antibody screening and identification tests showed strong reactivity (3+ to 4+) in all panel cells except in her autologous cells. Based on these results, we concluded that she had an alloantibody to a high-prevalence antigen. Anti-PP1Pk alloantibody with p phenotype was identified by additional serological tests in a foreign reference laboratory. To confirm the patient’s p phenotype, polymerase chain reaction and sequencing of the A4GALT gene were performed on her blood sample. She was homozygous for c.301delG in the A4GALT gene, which finally confirmed that she had the anti-PP1Pk antibody with p phenotype. Fortunately, her anemia caused due to iron deficiency could be treated with iron supplementation without the need for any transfusion. However, it remains extremely difficult to find compatible red blood cells in such settings in Korea. Moreover, there has been very little research on the prevalence of the p phenotype in the Korean population. Therefore, additional research is needed on rare blood group antibodies and high-prevalence antigens, including anti-PP1Pk cases.
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