Division of Thrombosis and Haemostasis, Department of Haematology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
Radboud University Medical Center, Hemophilia Treatment Centre, Nijmegen-Eindhoven-Maastricht, Nijmegen, The Netherlands.
Haemophilia. 2022 May;28 Suppl 4:119-124. doi: 10.1111/hae.14561.
Rare bleeding disorders result in significant morbidity but are globally underdiagnosed. Advances in genomic testing and specialist laboratory assays have greatly increased the diagnostic armamentarium. This has resulted in the discovery of new genetic causes for rare diseases and a better understanding of the underlying molecular pathology.
罕见的出血性疾病会导致严重的发病率，但在全球范围内却未得到充分诊断。基因组检测和专业实验室检测的进步极大地增加了诊断工具。这导致发现了罕见疾病的新遗传原因，并更好地了解了潜在的分子病理学。
