血液疾病与输血杂志

抽象的

Emerging Trends of Next Generation Sequencing of Human Platelet Antigens in Transfusion Medicine

Guglielmino J, Denise E Jackson

Human Platelet Antigen (HPA) genotyping has played a pivotal role in platelet transfusion medicine for decades, including the characterization of immune mediated thrombocytopenias and the provision of HPA-matched platelets to these patients. Real-time PCR is currently considered the current gold standard method to detect and discriminate HPA alleles. Although readily available, cheap, and quick to perform, these methods are restricted to the detection of known Single Nucleotide Variants (SNVs) and confer disadvantages such as allele drop-out and an inability to detect novel, rare and inactivating alleles. NGS offers unique advantages that overcomes these pitfalls and more, however ongoing challenges such as cost, data storage, accurate variant calling and availability of technically trained staff means a large debate continues to exist about its widespread implementation. Despite the technical and clinical advantages of NGS over SNV-based methods, particularly in high-throughput settings such as donor, rare allele and prenatal screening programs, these challenges currently impede the implementation of NGS as a stand-alone technique for HPA typing.