Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Immunohematology and Genomics, New York Blood Center, New York City, NY, United States.
Blood Cells Mol Dis. 2017 Sep;67:148-154. doi: 10.1016/j.bcmd.2017.08.006. Epub 2017 Aug 8.
The application of genomic approaches is impacting all areas of laboratory testing including transfusion medicine. Use of DNA-based test methods is particularly applicable for red cell and platelet antigen typing as the majority of genes encoding the carrier proteins and carbohydrates are now known and were cloned in the 1990's. Many of the antigenic polymorphisms are due to single nucleotide changes (SNP's) in the respective genes and DNA-arrays that target these changes have been validated by comparison with conventional serologic typing. Here we review the advances in the last decade in the application of DNA-based genotyping to transfusion therapy, specifically in sickle cell anemia (SCA), and discuss the practical integration and the value of this approach to improve outcomes and prevent complications in this patient population. The ability to test for antigens for which there are no serologic reagents is a major medical advance that promises to mitigate transfusion related morbidity and mortality due to alloimmunization.
基因组方法的应用正在影响实验室检测的各个领域,包括输血医学。基于 DNA 的测试方法在红细胞和血小板抗原分型方面特别适用,因为大多数编码载体蛋白和碳水化合物的基因现在已经被发现,并在 20 世纪 90 年代被克隆。许多抗原多态性是由于各自基因中的单核苷酸变化 (SNP) 引起的,针对这些变化的 DNA 芯片已通过与传统血清学分型进行比较得到验证。在这里,我们回顾了过去十年中 DNA 基因分型在输血治疗中的应用进展,特别是在镰状细胞贫血 (SCA) 中的应用,并讨论了这种方法在改善该患者群体的结果和预防并发症方面的实际整合和价值。能够检测没有血清学试剂的抗原是一项重大医学进展,有望减轻由于同种免疫引起的输血相关发病率和死亡率。