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女性出血性疾病的遗传学

Genetics of bleeding disorders in women.

作者信息

Novelli Enrico M, Ragni Margaret V

机构信息

Department of Medicine, Division of Hematology and Oncology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

出版信息

Semin Thromb Hemost. 2008 Sep;34(6):509-19. doi: 10.1055/s-0028-1103362. Epub 2008 Nov 28.

Abstract

With the strides being made in the European, Canadian, and American prospective studies of von Willebrand disease (VWD) genotype and phenotype, genetics is increasingly playing a key role in the classification, understanding, and management of VWD. It is anticipated that as gene sequencing becomes easier and more commonplace and the relationship between genotype and clinical and laboratory phenotype becomes clearer, genetic analysis will assume an increasingly important role in diagnosis, prediction of clinical severity, response to hemostatic agents, and optimal individualized management. This is an evolving field, so the reader is urged to stay tuned as new information becomes available, as it will likely change how individuals with bleeding disorders are managed. The purpose of this article is to review the genetics of inherited bleeding disorders in women, focusing on bleeding manifestations, diagnostic methodologies, and management.

摘要

随着欧洲、加拿大和美国在血管性血友病(VWD)基因型和表型前瞻性研究方面取得的进展,遗传学在VWD的分类、理解和管理中发挥着越来越关键的作用。预计随着基因测序变得更加简便和普遍,以及基因型与临床和实验室表型之间的关系变得更加清晰,基因分析将在诊断、临床严重程度预测、止血剂反应以及最佳个体化管理中发挥越来越重要的作用。这是一个不断发展的领域,因此敦促读者持续关注新信息,因为它可能会改变出血性疾病患者的管理方式。本文的目的是回顾女性遗传性出血性疾病的遗传学,重点关注出血表现、诊断方法和管理。

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