Westhoff Connie M, Floch Aline
New York Blood Center Enterprises, National Center for Blood Group Genomics, New York, New York, USA.
Univ Paris Est Creteil, INSERM U955 Equipe Transfusion et Maladies du Globule Rouge, IMRB, Creteil, France.
Br J Haematol. 2025 Jan;206(1):18-32. doi: 10.1111/bjh.19664. Epub 2024 Aug 5.
The last decade has seen significant growth in the application of DNA-based methods for extended antigen typing, and the use of gene sequencing to consider variation in blood group genes to guide clinical care. The challenge for the field now lies in educating professionals, expanding accessibility and standardizing the use of genotyping for routine patient care. Here we discuss applications of genotyping when transfusion is not straightforward including when compatibility cannot be demonstrated by routine methods, when Rh type is unclear, when allo- and auto-antibodies are encountered in stem cell and organ transplantation, for prenatal testing to determine maternal and foetal risk for complications, and Group A subtyping for kidney and platelet donors. We summarize current commercial testing resources and new approaches to testing including high-density arrays and targeted next-generation sequencing (NGS).
在过去十年中，基于DNA的方法在扩展抗原分型中的应用以及利用基因测序来考量血型基因变异以指导临床护理方面取得了显著进展。该领域目前面临的挑战在于对专业人员进行培训、扩大可及性以及规范基因分型在常规患者护理中的应用。在此，我们讨论在输血情况不简单时基因分型的应用，包括常规方法无法证明相容性时、Rh血型类型不明时、在干细胞和器官移植中遇到同种和自身抗体时、用于产前检测以确定母婴并发症风险时，以及对肾脏和血小板供体进行A型亚型分型时。我们总结了当前的商业检测资源以及包括高密度芯片和靶向新一代测序（NGS）在内的新检测方法。
