Fasano Ross M, Chou Stella T
Transfusion, Tissue, & Apheresis, Children's Healthcare of Atlanta, Departments of Clinical Pathology & Pediatric Hematology, Emory University School of Medicine, Atlanta, GA.
Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Transfus Med Rev. 2016 Oct;30(4):197-201. doi: 10.1016/j.tmrv.2016.05.011. Epub 2016 May 28.
Since the discovery of the ABO blood group in the early 20th century, more than 300 blood group antigens have been categorized among 35 blood group systems. The molecular basis for most blood group antigens has been determined and demonstrates tremendous genetic diversity, particularly in the ABO and Rh systems. Several blood group genotyping assays have been developed, and 1 platform has been approved by the Food and Drug Administration as a "test of record," such that no phenotype confirmation with antisera is required. DNA-based red blood cell (RBC) phenotyping can overcome certain limitations of hemagglutination assays and is beneficial in many transfusion settings. Genotyping can be used to determine RBC antigen phenotypes in patients recently transfused or with interfering allo- or autoantibodies, to resolve discrepant serologic typing, and/or when typing antisera are not readily available. Molecular RBC antigen typing can facilitate complex antibody evaluations and guide RBC selection for patients with sickle cell disease (SCD), thalassemia, and autoimmune hemolytic anemia. High-resolution RH genotyping can identify variant RHD and RHCE in patients with SCD, which have been associated with alloimmunization. In the future, broader access to cost-efficient, high-resolution RBC genotyping technology for both patient and donor populations may be transformative for the field of transfusion medicine.
自20世纪初发现ABO血型以来，已在35个血型系统中归类了300多种血型抗原。大多数血型抗原的分子基础已被确定，并显示出巨大的遗传多样性，尤其是在ABO和Rh系统中。已经开发了几种血型基因分型检测方法，并且有1种平台已获得美国食品药品监督管理局批准作为“记录检测”，因此无需用抗血清进行表型确认。基于DNA的红细胞（RBC）表型分析可以克服血凝试验的某些局限性，并且在许多输血情况下都有益处。基因分型可用于确定近期输血或存在干扰性同种异体或自身抗体的患者的RBC抗原表型，以解决血清学分型不一致的问题，和/或在分型抗血清不易获得时使用。分子RBC抗原分型有助于复杂的抗体评估，并指导镰状细胞病（SCD）、地中海贫血和自身免疫性溶血性贫血患者的RBC选择。高分辨率RH基因分型可以识别SCD患者中的变异RHD和RHCE，这些变异与同种免疫有关。未来，更广泛地为患者和供体群体提供经济高效的高分辨率RBC基因分型技术可能会改变输血医学领域。
